Name: rs1530496
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1530496

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:13931231 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.315564 (108628/344234, ALFA)
T=0.414591 (109738/264690, TOPMED)
T=0.367364 (92279/251192, GnomAD_exome) (+ 26 more)
T=0.398829 (55852/140040, GnomAD)
T=0.369135 (44793/121346, ExAC)
C=0.48818 (38420/78700, PAGE_STUDY)
C=0.31733 (8967/28258, 14KJPN)
C=0.31724 (5317/16760, 8.3KJPN)
T=0.39051 (5079/13006, GO-ESP)
T=0.4973 (3185/6404, 1000G_30x)
C=0.4994 (2501/5008, 1000G)
T=0.3170 (1420/4480, Estonian)
T=0.2815 (1085/3854, ALSPAC)
T=0.2848 (1056/3708, TWINSUK)
C=0.2594 (760/2930, KOREAN)
T=0.4731 (986/2084, HGDP_Stanford)
T=0.4899 (925/1888, HapMap)
C=0.2593 (475/1832, Korea1K)
T=0.2988 (337/1128, Daghestan)
T=0.278 (277/998, GoNL)
C=0.350 (215/614, Vietnamese)
T=0.255 (153/600, NorthernSweden)
T=0.303 (162/534, MGP)
C=0.299 (112/374, SGDP_PRJ)
T=0.283 (86/304, FINRISK)
T=0.384 (83/216, Qatari)
T=0.28 (11/40, GENOME_DK)
C=0.32 (11/34, Siberian)
T=0.29 (8/28, Ancient Sardinia)

Clinical Significance: Reported in ClinVar
Gene : Consequence: DNAH5 : Missense Variant
Publications: 2 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	360370	C=0.681511	T=0.318489
European	Sub	305614	C=0.708554	T=0.291446
African	Sub	15988	C=0.43095	T=0.56905
African Others	Sub	576	C=0.392	T=0.608
African American	Sub	15412	C=0.43239	T=0.56761
Asian	Sub	6678	C=0.2959	T=0.7041
East Asian	Sub	4744	C=0.2827	T=0.7173
Other Asian	Sub	1934	C=0.3283	T=0.6717
Latin American 1	Sub	1372	C=0.5751	T=0.4249
Latin American 2	Sub	2934	C=0.5913	T=0.4087
South Asian	Sub	5190	C=0.6557	T=0.3443
Other	Sub	22594	C=0.63110	T=0.36890

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	344234	C=0.684436	T=0.315564
Allele Frequency Aggregator	European	Sub	295710	C=0.708593	T=0.291407
Allele Frequency Aggregator	Other	Sub	21172	C=0.62824	T=0.37176
Allele Frequency Aggregator	African	Sub	11178	C=0.43514	T=0.56486
Allele Frequency Aggregator	Asian	Sub	6678	C=0.2959	T=0.7041
Allele Frequency Aggregator	South Asian	Sub	5190	C=0.6557	T=0.3443
Allele Frequency Aggregator	Latin American 2	Sub	2934	C=0.5913	T=0.4087
Allele Frequency Aggregator	Latin American 1	Sub	1372	C=0.5751	T=0.4249
TopMed	Global	Study-wide	264690	C=0.585409	T=0.414591
gnomAD - Exomes	Global	Study-wide	251192	C=0.632636	T=0.367364
gnomAD - Exomes	European	Sub	135192	C=0.710301	T=0.289699
gnomAD - Exomes	Asian	Sub	48982	C=0.51447	T=0.48553
gnomAD - Exomes	American	Sub	34576	C=0.57852	T=0.42148
gnomAD - Exomes	African	Sub	16250	C=0.42400	T=0.57600
gnomAD - Exomes	Ashkenazi Jewish	Sub	10070	C=0.66812	T=0.33188
gnomAD - Exomes	Other	Sub	6122	C=0.6640	T=0.3360
gnomAD - Genomes	Global	Study-wide	140040	C=0.601171	T=0.398829
gnomAD - Genomes	European	Sub	75836	C=0.70304	T=0.29696
gnomAD - Genomes	African	Sub	41974	C=0.43139	T=0.56861
gnomAD - Genomes	American	Sub	13634	C=0.61295	T=0.38705
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	C=0.6522	T=0.3478
gnomAD - Genomes	East Asian	Sub	3126	C=0.3049	T=0.6951
gnomAD - Genomes	Other	Sub	2152	C=0.5999	T=0.4001
ExAC	Global	Study-wide	121346	C=0.630865	T=0.369135
ExAC	Europe	Sub	73330	C=0.70705	T=0.29295
ExAC	Asian	Sub	25134	C=0.52077	T=0.47923
ExAC	American	Sub	11572	C=0.56732	T=0.43268
ExAC	African	Sub	10402	C=0.42732	T=0.57268
ExAC	Other	Sub	908	C=0.667	T=0.333
The PAGE Study	Global	Study-wide	78700	C=0.48818	T=0.51182
The PAGE Study	AfricanAmerican	Sub	32516	C=0.43480	T=0.56520
The PAGE Study	Mexican	Sub	10810	C=0.59537	T=0.40463
The PAGE Study	Asian	Sub	8318	C=0.3328	T=0.6672
The PAGE Study	PuertoRican	Sub	7918	C=0.5817	T=0.4183
The PAGE Study	NativeHawaiian	Sub	4534	C=0.4034	T=0.5966
The PAGE Study	Cuban	Sub	4230	C=0.6473	T=0.3527
The PAGE Study	Dominican	Sub	3828	C=0.5522	T=0.4478
The PAGE Study	CentralAmerican	Sub	2450	C=0.5669	T=0.4331
The PAGE Study	SouthAmerican	Sub	1980	C=0.5470	T=0.4530
The PAGE Study	NativeAmerican	Sub	1260	C=0.6246	T=0.3754
The PAGE Study	SouthAsian	Sub	856	C=0.621	T=0.379
14KJPN	JAPANESE	Study-wide	28258	C=0.31733	T=0.68267
8.3KJPN	JAPANESE	Study-wide	16760	C=0.31724	T=0.68276
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.60949	T=0.39051
GO Exome Sequencing Project	European American	Sub	8600	C=0.6978	T=0.3022
GO Exome Sequencing Project	African American	Sub	4406	C=0.4371	T=0.5629
1000Genomes_30x	Global	Study-wide	6404	C=0.5027	T=0.4973
1000Genomes_30x	African	Sub	1786	C=0.4003	T=0.5997
1000Genomes_30x	Europe	Sub	1266	C=0.7054	T=0.2946
1000Genomes_30x	South Asian	Sub	1202	C=0.6048	T=0.3952
1000Genomes_30x	East Asian	Sub	1170	C=0.3034	T=0.6966
1000Genomes_30x	American	Sub	980	C=0.540	T=0.460
1000Genomes	Global	Study-wide	5008	C=0.4994	T=0.5006
1000Genomes	African	Sub	1322	C=0.3888	T=0.6112
1000Genomes	East Asian	Sub	1008	C=0.2986	T=0.7014
1000Genomes	Europe	Sub	1006	C=0.7167	T=0.2833
1000Genomes	South Asian	Sub	978	C=0.608	T=0.392
1000Genomes	American	Sub	694	C=0.533	T=0.467
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.6830	T=0.3170
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.7185	T=0.2815
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.7152	T=0.2848
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.2594	G=0.0000, T=0.7406
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.5269	T=0.4731
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.343	T=0.657
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.601	T=0.399
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.646	T=0.354
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.722	T=0.278
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.475	T=0.525
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.361	T=0.639
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.53	T=0.47
HapMap	Global	Study-wide	1888	C=0.5101	T=0.4899
HapMap	American	Sub	768	C=0.559	T=0.441
HapMap	African	Sub	692	C=0.475	T=0.525
HapMap	Asian	Sub	252	C=0.321	T=0.679
HapMap	Europe	Sub	176	C=0.705	T=0.295
Korean Genome Project	KOREAN	Study-wide	1832	C=0.2593	T=0.7407
Genome-wide autozygosity in Daghestan	Global	Study-wide	1128	C=0.7012	T=0.2988
Genome-wide autozygosity in Daghestan	Daghestan	Sub	622	C=0.727	T=0.273
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	C=0.732	T=0.268
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.582	T=0.418
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.704	T=0.296
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.68	T=0.32
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.58	T=0.42
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.722	T=0.278
A Vietnamese Genetic Variation Database	Global	Study-wide	614	C=0.350	T=0.650
Northern Sweden	ACPOP	Study-wide	600	C=0.745	T=0.255
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.697	T=0.303
SGDP_PRJ	Global	Study-wide	374	C=0.299	T=0.701
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.717	T=0.283
Qatari	Global	Study-wide	216	C=0.616	T=0.384
The Danish reference pan genome	Danish	Study-wide	40	C=0.72	T=0.28
Siberian	Global	Study-wide	34	C=0.32	T=0.68
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	28	C=0.71	T=0.29

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 5	NC_000005.10:g.13931231C>G
GRCh38.p14 chr 5	NC_000005.10:g.13931231C>T
GRCh37.p13 chr 5	NC_000005.9:g.13931340C>G
GRCh37.p13 chr 5	NC_000005.9:g.13931340C>T
DNAH5 RefSeqGene	NG_013081.2:g.18250G>C
DNAH5 RefSeqGene	NG_013081.2:g.18250G>A

Gene: DNAH5, dynein axonemal heavy chain 5 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DNAH5 transcript	NM_001369.3:c.71G>C	G [GGA] > A [GCA]	Coding Sequence Variant
dynein axonemal heavy chain 5	NP_001360.1:p.Gly24Ala	G (Gly) > A (Ala)	Missense Variant
DNAH5 transcript	NM_001369.3:c.71G>A	G [GGA] > E [GAA]	Coding Sequence Variant
dynein axonemal heavy chain 5	NP_001360.1:p.Gly24Glu	G (Gly) > E (Glu)	Missense Variant
DNAH5 transcript variant X2	XM_047416886.1:c.-170=	N/A	5 Prime UTR Variant
DNAH5 transcript variant X4	XM_017009179.3:c.	N/A	Genic Upstream Transcript Variant
DNAH5 transcript variant X9	XM_017009185.1:c.	N/A	Genic Upstream Transcript Variant
DNAH5 transcript variant X12	XM_017009186.2:c.	N/A	Genic Upstream Transcript Variant
DNAH5 transcript variant X14	XM_017009188.2:c.	N/A	Genic Upstream Transcript Variant
DNAH5 transcript variant X1	XM_005248262.4:c.179G>C	G [GGA] > A [GCA]	Coding Sequence Variant
dynein axonemal heavy chain 5 isoform X1	XP_005248319.2:p.Gly60Ala	G (Gly) > A (Ala)	Missense Variant
DNAH5 transcript variant X1	XM_005248262.4:c.179G>A	G [GGA] > E [GAA]	Coding Sequence Variant
dynein axonemal heavy chain 5 isoform X1	XP_005248319.2:p.Gly60Glu	G (Gly) > E (Glu)	Missense Variant
DNAH5 transcript variant X3	XM_017009177.2:c.179G>C	G [GGA] > A [GCA]	Coding Sequence Variant
dynein axonemal heavy chain 5 isoform X3	XP_016864666.1:p.Gly60Ala	G (Gly) > A (Ala)	Missense Variant
DNAH5 transcript variant X3	XM_017009177.2:c.179G>A	G [GGA] > E [GAA]	Coding Sequence Variant
dynein axonemal heavy chain 5 isoform X3	XP_016864666.1:p.Gly60Glu	G (Gly) > E (Glu)	Missense Variant
DNAH5 transcript variant X5	XM_017009180.2:c.179G>C	G [GGA] > A [GCA]	Coding Sequence Variant
dynein axonemal heavy chain 5 isoform X5	XP_016864669.1:p.Gly60Ala	G (Gly) > A (Ala)	Missense Variant
DNAH5 transcript variant X5	XM_017009180.2:c.179G>A	G [GGA] > E [GAA]	Coding Sequence Variant
dynein axonemal heavy chain 5 isoform X5	XP_016864669.1:p.Gly60Glu	G (Gly) > E (Glu)	Missense Variant
DNAH5 transcript variant X6	XM_017009181.2:c.179G>C	G [GGA] > A [GCA]	Coding Sequence Variant
dynein axonemal heavy chain 5 isoform X6	XP_016864670.1:p.Gly60Ala	G (Gly) > A (Ala)	Missense Variant
DNAH5 transcript variant X6	XM_017009181.2:c.179G>A	G [GGA] > E [GAA]	Coding Sequence Variant
dynein axonemal heavy chain 5 isoform X6	XP_016864670.1:p.Gly60Glu	G (Gly) > E (Glu)	Missense Variant
DNAH5 transcript variant X7	XM_017009182.2:c.179G>C	G [GGA] > A [GCA]	Coding Sequence Variant
dynein axonemal heavy chain 5 isoform X7	XP_016864671.1:p.Gly60Ala	G (Gly) > A (Ala)	Missense Variant
DNAH5 transcript variant X7	XM_017009182.2:c.179G>A	G [GGA] > E [GAA]	Coding Sequence Variant
dynein axonemal heavy chain 5 isoform X7	XP_016864671.1:p.Gly60Glu	G (Gly) > E (Glu)	Missense Variant
DNAH5 transcript variant X8	XM_017009184.2:c.179G>C	G [GGA] > A [GCA]	Coding Sequence Variant
dynein axonemal heavy chain 5 isoform X8	XP_016864673.1:p.Gly60Ala	G (Gly) > A (Ala)	Missense Variant
DNAH5 transcript variant X8	XM_017009184.2:c.179G>A	G [GGA] > E [GAA]	Coding Sequence Variant
dynein axonemal heavy chain 5 isoform X8	XP_016864673.1:p.Gly60Glu	G (Gly) > E (Glu)	Missense Variant
DNAH5 transcript variant X13	XM_017009187.2:c.179G>C	G [GGA] > A [GCA]	Coding Sequence Variant
dynein axonemal heavy chain 5 isoform X11	XP_016864676.1:p.Gly60Ala	G (Gly) > A (Ala)	Missense Variant
DNAH5 transcript variant X13	XM_017009187.2:c.179G>A	G [GGA] > E [GAA]	Coding Sequence Variant
dynein axonemal heavy chain 5 isoform X11	XP_016864676.1:p.Gly60Glu	G (Gly) > E (Glu)	Missense Variant
DNAH5 transcript variant X10	XR_001742034.2:n.185G>C	N/A	Non Coding Transcript Variant
DNAH5 transcript variant X10	XR_001742034.2:n.185G>A	N/A	Non Coding Transcript Variant
DNAH5 transcript variant X11	XR_001742035.2:n.185G>C	N/A	Non Coding Transcript Variant
DNAH5 transcript variant X11	XR_001742035.2:n.185G>A	N/A	Non Coding Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: T (allele ID: 173570 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000150490.8	not specified	Benign
RCV000347580.9	Primary ciliary dyskinesia	Benign
RCV001095037.6	Primary ciliary dyskinesia 3	Benign
RCV001705995.1	not provided	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	C=	G	T
GRCh38.p14 chr 5	NC_000005.10:g.13931231=	NC_000005.10:g.13931231C>G	NC_000005.10:g.13931231C>T
GRCh37.p13 chr 5	NC_000005.9:g.13931340=	NC_000005.9:g.13931340C>G	NC_000005.9:g.13931340C>T
DNAH5 RefSeqGene	NG_013081.2:g.18250=	NG_013081.2:g.18250G>C	NG_013081.2:g.18250G>A
DNAH5 transcript	NM_001369.3:c.71=	NM_001369.3:c.71G>C	NM_001369.3:c.71G>A
DNAH5 transcript	NM_001369.2:c.71=	NM_001369.2:c.71G>C	NM_001369.2:c.71G>A
DNAH5 transcript variant X1	XM_005248262.4:c.179=	XM_005248262.4:c.179G>C	XM_005248262.4:c.179G>A
DNAH5 transcript variant X1	XM_005248262.3:c.179=	XM_005248262.3:c.179G>C	XM_005248262.3:c.179G>A
DNAH5 transcript variant X1	XM_005248262.2:c.26=	XM_005248262.2:c.26G>C	XM_005248262.2:c.26G>A
DNAH5 transcript variant X1	XM_005248262.1:c.26=	XM_005248262.1:c.26G>C	XM_005248262.1:c.26G>A
DNAH5 transcript variant X3	XM_017009177.2:c.179=	XM_017009177.2:c.179G>C	XM_017009177.2:c.179G>A
DNAH5 transcript variant X2	XM_017009177.1:c.179=	XM_017009177.1:c.179G>C	XM_017009177.1:c.179G>A
DNAH5 transcript variant X5	XM_017009180.2:c.179=	XM_017009180.2:c.179G>C	XM_017009180.2:c.179G>A
DNAH5 transcript variant X6	XM_017009180.1:c.179=	XM_017009180.1:c.179G>C	XM_017009180.1:c.179G>A
DNAH5 transcript variant X6	XM_017009181.2:c.179=	XM_017009181.2:c.179G>C	XM_017009181.2:c.179G>A
DNAH5 transcript variant X8	XM_017009181.1:c.179=	XM_017009181.1:c.179G>C	XM_017009181.1:c.179G>A
DNAH5 transcript variant X7	XM_017009182.2:c.179=	XM_017009182.2:c.179G>C	XM_017009182.2:c.179G>A
DNAH5 transcript variant X9	XM_017009182.1:c.179=	XM_017009182.1:c.179G>C	XM_017009182.1:c.179G>A
DNAH5 transcript variant X8	XM_017009184.2:c.179=	XM_017009184.2:c.179G>C	XM_017009184.2:c.179G>A
DNAH5 transcript variant X11	XM_017009184.1:c.179=	XM_017009184.1:c.179G>C	XM_017009184.1:c.179G>A
DNAH5 transcript variant X10	XR_001742034.2:n.185=	XR_001742034.2:n.185G>C	XR_001742034.2:n.185G>A
DNAH5 transcript variant X13	XR_001742034.1:n.196=	XR_001742034.1:n.196G>C	XR_001742034.1:n.196G>A
DNAH5 transcript variant X11	XR_001742035.2:n.185=	XR_001742035.2:n.185G>C	XR_001742035.2:n.185G>A
DNAH5 transcript variant X14	XR_001742035.1:n.196=	XR_001742035.1:n.196G>C	XR_001742035.1:n.196G>A
DNAH5 transcript variant X13	XM_017009187.2:c.179=	XM_017009187.2:c.179G>C	XM_017009187.2:c.179G>A
DNAH5 transcript variant X16	XM_017009187.1:c.179=	XM_017009187.1:c.179G>C	XM_017009187.1:c.179G>A
DNAH5 transcript variant X2	XM_047416886.1:c.-170=	XM_047416886.1:c.-170G>C	XM_047416886.1:c.-170G>A
dynein axonemal heavy chain 5	NP_001360.1:p.Gly24=	NP_001360.1:p.Gly24Ala	NP_001360.1:p.Gly24Glu
dynein axonemal heavy chain 5 isoform X1	XP_005248319.2:p.Gly60=	XP_005248319.2:p.Gly60Ala	XP_005248319.2:p.Gly60Glu
dynein axonemal heavy chain 5 isoform X3	XP_016864666.1:p.Gly60=	XP_016864666.1:p.Gly60Ala	XP_016864666.1:p.Gly60Glu
dynein axonemal heavy chain 5 isoform X5	XP_016864669.1:p.Gly60=	XP_016864669.1:p.Gly60Ala	XP_016864669.1:p.Gly60Glu
dynein axonemal heavy chain 5 isoform X6	XP_016864670.1:p.Gly60=	XP_016864670.1:p.Gly60Ala	XP_016864670.1:p.Gly60Glu
dynein axonemal heavy chain 5 isoform X7	XP_016864671.1:p.Gly60=	XP_016864671.1:p.Gly60Ala	XP_016864671.1:p.Gly60Glu
dynein axonemal heavy chain 5 isoform X8	XP_016864673.1:p.Gly60=	XP_016864673.1:p.Gly60Ala	XP_016864673.1:p.Gly60Glu
dynein axonemal heavy chain 5 isoform X11	XP_016864676.1:p.Gly60=	XP_016864676.1:p.Gly60Ala	XP_016864676.1:p.Gly60Glu
dynein heavy chain 5, axonemal isoform X1	XP_005248319.1:p.Gly9=	XP_005248319.1:p.Gly9Ala	XP_005248319.1:p.Gly9Glu

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

171 SubSNP, 29 Frequency, 4 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2371246	Oct 23, 2000 (88)
2	SC_SNP	ss14812884	Dec 05, 2003 (119)
3	PERLEGEN	ss23982636	Sep 20, 2004 (123)
4	ABI	ss44679915	Mar 13, 2006 (126)
5	ILLUMINA	ss66640061	Nov 29, 2006 (127)
6	ILLUMINA	ss67126112	Nov 29, 2006 (127)
7	ILLUMINA	ss67465182	Nov 29, 2006 (127)
8	PERLEGEN	ss68927942	May 16, 2007 (127)
9	ILLUMINA	ss70440593	May 16, 2007 (127)
10	ILLUMINA	ss70628983	May 25, 2008 (130)
11	ILLUMINA	ss71178782	May 16, 2007 (127)
12	AFFY	ss74809023	Aug 16, 2007 (128)
13	ILLUMINA	ss75506856	Dec 07, 2007 (129)
14	HGSV	ss79814545	Dec 15, 2007 (130)
15	KRIBB_YJKIM	ss83819139	Dec 15, 2007 (130)
16	BGI	ss104170080	Dec 01, 2009 (131)
17	1000GENOMES	ss111456405	Jan 25, 2009 (130)
18	ILLUMINA-UK	ss116485683	Feb 14, 2009 (130)
19	ILLUMINA	ss121738174	Dec 01, 2009 (131)
20	ILLUMINA	ss153494974	Dec 01, 2009 (131)
21	GMI	ss155068954	Dec 01, 2009 (131)
22	ILLUMINA	ss159281123	Dec 01, 2009 (131)
23	SEATTLESEQ	ss159709132	Dec 01, 2009 (131)
24	ILLUMINA	ss160367606	Dec 01, 2009 (131)
25	COMPLETE_GENOMICS	ss164286120	Jul 04, 2010 (132)
26	ILLUMINA	ss170613114	Jul 04, 2010 (132)
27	ILLUMINA	ss172561473	Jul 04, 2010 (132)
28	BUSHMAN	ss199909423	Jul 04, 2010 (132)
29	1000GENOMES	ss221529634	Jul 14, 2010 (132)
30	1000GENOMES	ss232837594	Jul 14, 2010 (132)
31	1000GENOMES	ss240033519	Jul 15, 2010 (132)
32	BL	ss253245616	May 09, 2011 (134)
33	GMI	ss278177840	May 04, 2012 (137)
34	GMI	ss285123659	Apr 25, 2013 (138)
35	PJP	ss293484574	May 09, 2011 (134)
36	NHLBI-ESP	ss342178270	May 09, 2011 (134)
37	ILLUMINA	ss480018071	May 04, 2012 (137)
38	ILLUMINA	ss480026862	May 04, 2012 (137)
39	ILLUMINA	ss480687872	Sep 08, 2015 (146)
40	ILLUMINA	ss484807179	May 04, 2012 (137)
41	1000GENOMES	ss490900696	May 04, 2012 (137)
42	EXOME_CHIP	ss491364689	May 04, 2012 (137)
43	CLINSEQ_SNP	ss491864768	May 04, 2012 (137)
44	ILLUMINA	ss536888355	Sep 08, 2015 (146)
45	TISHKOFF	ss558221015	Apr 25, 2013 (138)
46	SSMP	ss652065408	Apr 25, 2013 (138)
47	ILLUMINA	ss778436991	Aug 21, 2014 (142)
48	ILLUMINA	ss780835587	Sep 08, 2015 (146)
49	ILLUMINA	ss782850175	Aug 21, 2014 (142)
50	ILLUMINA	ss783518696	Sep 08, 2015 (146)
51	ILLUMINA	ss783814731	Aug 21, 2014 (142)
52	ILLUMINA	ss825409577	Apr 01, 2015 (144)
53	ILLUMINA	ss832104045	Apr 01, 2015 (144)
54	ILLUMINA	ss832793263	Aug 21, 2014 (142)
55	ILLUMINA	ss833384093	Aug 21, 2014 (142)
56	ILLUMINA	ss833892502	Aug 21, 2014 (142)
57	JMKIDD_LAB	ss974455201	Aug 21, 2014 (142)
58	EVA-GONL	ss981273296	Aug 21, 2014 (142)
59	JMKIDD_LAB	ss1067466957	Aug 21, 2014 (142)
60	JMKIDD_LAB	ss1072410973	Aug 21, 2014 (142)
61	1000GENOMES	ss1313998527	Aug 21, 2014 (142)
62	HAMMER_LAB	ss1397405844	Sep 08, 2015 (146)
63	DDI	ss1430254783	Apr 01, 2015 (144)
64	EVA_GENOME_DK	ss1581022645	Apr 01, 2015 (144)
65	EVA_FINRISK	ss1584037959	Apr 01, 2015 (144)
66	EVA_DECODE	ss1590791311	Apr 01, 2015 (144)
67	EVA_UK10K_ALSPAC	ss1612328429	Apr 01, 2015 (144)
68	EVA_UK10K_TWINSUK	ss1655322462	Apr 01, 2015 (144)
69	EVA_EXAC	ss1687755752	Apr 01, 2015 (144)
70	EVA_MGP	ss1711081845	Apr 01, 2015 (144)
71	EVA_SVP	ss1712746032	Apr 01, 2015 (144)
72	ILLUMINA	ss1752551167	Sep 08, 2015 (146)
73	ILLUMINA	ss1752551168	Sep 08, 2015 (146)
74	HAMMER_LAB	ss1803099246	Sep 08, 2015 (146)
75	ILLUMINA	ss1917788222	Feb 12, 2016 (147)
76	WEILL_CORNELL_DGM	ss1924534947	Feb 12, 2016 (147)
77	ILLUMINA	ss1946138929	Feb 12, 2016 (147)
78	ILLUMINA	ss1946138930	Feb 12, 2016 (147)
79	ILLUMINA	ss1958768593	Feb 12, 2016 (147)
80	ILLUMINA	ss1958768594	Feb 12, 2016 (147)
81	GENOMED	ss1970019851	Jul 19, 2016 (147)
82	JJLAB	ss2022865589	Sep 14, 2016 (149)
83	USC_VALOUEV	ss2151014405	Dec 20, 2016 (150)
84	HUMAN_LONGEVITY	ss2271573548	Dec 20, 2016 (150)
85	SYSTEMSBIOZJU	ss2625931543	Nov 08, 2017 (151)
86	ILLUMINA	ss2634248911	Nov 08, 2017 (151)
87	GRF	ss2706541879	Nov 08, 2017 (151)
88	ILLUMINA	ss2711030875	Nov 08, 2017 (151)
89	GNOMAD	ss2734916549	Nov 08, 2017 (151)
90	GNOMAD	ss2747360283	Nov 08, 2017 (151)
91	GNOMAD	ss2821410138	Nov 08, 2017 (151)
92	AFFY	ss2985316230	Nov 08, 2017 (151)
93	SWEGEN	ss2996474218	Nov 08, 2017 (151)
94	ILLUMINA	ss3022468235	Nov 08, 2017 (151)
95	ILLUMINA	ss3022468236	Nov 08, 2017 (151)
96	EVA_SAMSUNG_MC	ss3023061093	Nov 08, 2017 (151)
97	BIOINF_KMB_FNS_UNIBA	ss3025217459	Nov 08, 2017 (151)
98	CSHL	ss3346254397	Nov 08, 2017 (151)
99	ILLUMINA	ss3625867942	Oct 12, 2018 (152)
100	ILLUMINA	ss3629183064	Oct 12, 2018 (152)
101	ILLUMINA	ss3629183065	Oct 12, 2018 (152)
102	ILLUMINA	ss3632177561	Oct 12, 2018 (152)
103	ILLUMINA	ss3633366364	Oct 12, 2018 (152)
104	ILLUMINA	ss3634086644	Oct 12, 2018 (152)
105	ILLUMINA	ss3634992222	Oct 12, 2018 (152)
106	ILLUMINA	ss3634992223	Oct 12, 2018 (152)
107	ILLUMINA	ss3635768853	Oct 12, 2018 (152)
108	ILLUMINA	ss3636701733	Oct 12, 2018 (152)
109	ILLUMINA	ss3637521456	Oct 12, 2018 (152)
110	ILLUMINA	ss3638539767	Oct 12, 2018 (152)
111	ILLUMINA	ss3640699515	Oct 12, 2018 (152)
112	ILLUMINA	ss3640699516	Oct 12, 2018 (152)
113	ILLUMINA	ss3644871825	Oct 12, 2018 (152)
114	OMUKHERJEE_ADBS	ss3646317247	Oct 12, 2018 (152)
115	ILLUMINA	ss3652961212	Oct 12, 2018 (152)
116	ILLUMINA	ss3654089059	Oct 12, 2018 (152)
117	EGCUT_WGS	ss3664369226	Jul 13, 2019 (153)
118	EVA_DECODE	ss3714151298	Jul 13, 2019 (153)
119	ILLUMINA	ss3726215079	Jul 13, 2019 (153)
120	ACPOP	ss3732110488	Jul 13, 2019 (153)
121	ILLUMINA	ss3744533611	Jul 13, 2019 (153)
122	ILLUMINA	ss3745292362	Jul 13, 2019 (153)
123	EVA	ss3763097425	Jul 13, 2019 (153)
124	PAGE_CC	ss3771188102	Jul 13, 2019 (153)
125	ILLUMINA	ss3772786708	Jul 13, 2019 (153)
126	PACBIO	ss3785031748	Jul 13, 2019 (153)
127	PACBIO	ss3790449131	Jul 13, 2019 (153)
128	PACBIO	ss3795325736	Jul 13, 2019 (153)
129	KHV_HUMAN_GENOMES	ss3806264119	Jul 13, 2019 (153)
130	EVA	ss3824071403	Apr 26, 2020 (154)
131	EVA	ss3825522347	Apr 26, 2020 (154)
132	EVA	ss3825538544	Apr 26, 2020 (154)
133	EVA	ss3825670226	Apr 26, 2020 (154)
134	EVA	ss3829107339	Apr 26, 2020 (154)
135	HGDP	ss3847782399	Apr 26, 2020 (154)
136	SGDP_PRJ	ss3861264938	Apr 26, 2020 (154)
137	KRGDB	ss3907710385	Apr 26, 2020 (154)
138	KOGIC	ss3956136513	Apr 26, 2020 (154)
139	FSA-LAB	ss3984302484	Apr 26, 2021 (155)
140	FSA-LAB	ss3984302485	Apr 26, 2021 (155)
141	EVA	ss3985126813	Apr 26, 2021 (155)
142	EVA	ss3986030026	Apr 26, 2021 (155)
143	EVA	ss3986302532	Apr 26, 2021 (155)
144	EVA	ss4017194350	Apr 26, 2021 (155)
145	TOPMED	ss4650395596	Apr 26, 2021 (155)
146	TOMMO_GENOMICS	ss5170482191	Apr 26, 2021 (155)
147	EVA	ss5237011588	Apr 26, 2021 (155)
148	EVA	ss5237184991	Apr 26, 2021 (155)
149	EVA	ss5237643312	Oct 17, 2022 (156)
150	1000G_HIGH_COVERAGE	ss5262958251	Oct 17, 2022 (156)
151	TRAN_CS_UWATERLOO	ss5314412223	Oct 17, 2022 (156)
152	EVA	ss5315034185	Oct 17, 2022 (156)
153	EVA	ss5355805521	Oct 17, 2022 (156)
154	HUGCELL_USP	ss5461298412	Oct 17, 2022 (156)
155	EVA	ss5507921952	Oct 17, 2022 (156)
156	1000G_HIGH_COVERAGE	ss5546050838	Oct 17, 2022 (156)
157	EVA	ss5624145697	Oct 17, 2022 (156)
158	SANFORD_IMAGENETICS	ss5637232917	Oct 17, 2022 (156)
159	TOMMO_GENOMICS	ss5706183770	Oct 17, 2022 (156)
160	EVA	ss5799642064	Oct 17, 2022 (156)
161	EVA	ss5800120392	Oct 17, 2022 (156)
162	YY_MCH	ss5806042315	Oct 17, 2022 (156)
163	EVA	ss5834552750	Oct 17, 2022 (156)
164	EVA	ss5848042198	Oct 17, 2022 (156)
165	EVA	ss5848623744	Oct 17, 2022 (156)
166	EVA	ss5854694905	Oct 17, 2022 (156)
167	EVA	ss5893089436	Oct 17, 2022 (156)
168	EVA	ss5936526680	Oct 17, 2022 (156)
169	EVA	ss5965648769	Oct 17, 2022 (156)
170	EVA	ss5980280918	Oct 17, 2022 (156)
171	EVA	ss5981226957	Oct 17, 2022 (156)
172	1000Genomes	NC_000005.9 - 13931340	Oct 12, 2018 (152)
173	1000Genomes_30x	NC_000005.10 - 13931231	Oct 17, 2022 (156)
174	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 13931340	Oct 12, 2018 (152)
175	Genome-wide autozygosity in Daghestan	NC_000005.8 - 13984340	Apr 26, 2020 (154)
176	Genetic variation in the Estonian population	NC_000005.9 - 13931340	Oct 12, 2018 (152)
177	ExAC	NC_000005.9 - 13931340	Oct 12, 2018 (152)
178	FINRISK	NC_000005.9 - 13931340	Apr 26, 2020 (154)
179	The Danish reference pan genome	NC_000005.9 - 13931340	Apr 26, 2020 (154)
180	gnomAD - Genomes	NC_000005.10 - 13931231	Apr 26, 2021 (155)
181	gnomAD - Exomes	NC_000005.9 - 13931340	Jul 13, 2019 (153)
182	GO Exome Sequencing Project	NC_000005.9 - 13931340	Oct 12, 2018 (152)
183	Genome of the Netherlands Release 5	NC_000005.9 - 13931340	Apr 26, 2020 (154)
184	HGDP-CEPH-db Supplement 1	NC_000005.8 - 13984340	Apr 26, 2020 (154)
185	HapMap	NC_000005.10 - 13931231	Apr 26, 2020 (154)
186	KOREAN population from KRGDB	NC_000005.9 - 13931340	Apr 26, 2020 (154)
187	Korean Genome Project	NC_000005.10 - 13931231	Apr 26, 2020 (154)
188	Medical Genome Project healthy controls from Spanish population	NC_000005.9 - 13931340	Apr 26, 2020 (154)
189	Northern Sweden	NC_000005.9 - 13931340	Jul 13, 2019 (153)
190	The PAGE Study	NC_000005.10 - 13931231	Jul 13, 2019 (153)
191	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000005.9 - 13931340	Apr 26, 2021 (155)
192	Qatari	NC_000005.9 - 13931340	Apr 26, 2020 (154)
193	SGDP_PRJ	NC_000005.9 - 13931340	Apr 26, 2020 (154)
194	Siberian	NC_000005.9 - 13931340	Apr 26, 2020 (154)
195	8.3KJPN	NC_000005.9 - 13931340	Apr 26, 2021 (155)
196	14KJPN	NC_000005.10 - 13931231	Oct 17, 2022 (156)
197	TopMed	NC_000005.10 - 13931231	Apr 26, 2021 (155)
198	UK 10K study - Twins	NC_000005.9 - 13931340	Oct 12, 2018 (152)
199	A Vietnamese Genetic Variation Database	NC_000005.9 - 13931340	Jul 13, 2019 (153)
200	ALFA	NC_000005.10 - 13931231	Apr 26, 2021 (155)
201	ClinVar	RCV000150490.8	Oct 17, 2022 (156)
202	ClinVar	RCV000347580.9	Oct 17, 2022 (156)
203	ClinVar	RCV001095037.6	Oct 17, 2022 (156)
204	ClinVar	RCV001705995.1	Oct 17, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs52796631	Sep 21, 2007 (128)
rs59635012	May 25, 2008 (130)
rs386535846	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
14887779, ss3907710385	NC_000005.9:13931339:C:G	NC_000005.10:13931230:C:G	(self)
380980, 460291, ss79814545, ss111456405, ss116485683, ss164286120, ss199909423, ss253245616, ss278177840, ss285123659, ss293484574, ss491864768, ss825409577, ss1397405844, ss1590791311, ss1712746032, ss3847782399	NC_000005.8:13984339:C:T	NC_000005.10:13931230:C:T	(self)
25557035, 14224493, 10107474, 7742113, 34420, 7187584, 4032191, 529556, 6314081, 14887779, 197605, 5395353, 352740, 6576877, 13281918, 3530759, 28451498, 14224493, 3157022, ss221529634, ss232837594, ss240033519, ss342178270, ss480018071, ss480026862, ss480687872, ss484807179, ss490900696, ss491364689, ss536888355, ss558221015, ss652065408, ss778436991, ss780835587, ss782850175, ss783518696, ss783814731, ss832104045, ss832793263, ss833384093, ss833892502, ss974455201, ss981273296, ss1067466957, ss1072410973, ss1313998527, ss1430254783, ss1581022645, ss1584037959, ss1612328429, ss1655322462, ss1687755752, ss1711081845, ss1752551167, ss1752551168, ss1803099246, ss1917788222, ss1924534947, ss1946138929, ss1946138930, ss1958768593, ss1958768594, ss1970019851, ss2022865589, ss2151014405, ss2625931543, ss2634248911, ss2706541879, ss2711030875, ss2734916549, ss2747360283, ss2821410138, ss2985316230, ss2996474218, ss3022468235, ss3022468236, ss3023061093, ss3346254397, ss3625867942, ss3629183064, ss3629183065, ss3632177561, ss3633366364, ss3634086644, ss3634992222, ss3634992223, ss3635768853, ss3636701733, ss3637521456, ss3638539767, ss3640699515, ss3640699516, ss3644871825, ss3646317247, ss3652961212, ss3654089059, ss3664369226, ss3732110488, ss3744533611, ss3745292362, ss3763097425, ss3772786708, ss3785031748, ss3790449131, ss3795325736, ss3824071403, ss3825522347, ss3825538544, ss3825670226, ss3829107339, ss3861264938, ss3907710385, ss3984302484, ss3984302485, ss3985126813, ss3986030026, ss3986302532, ss4017194350, ss5170482191, ss5315034185, ss5355805521, ss5507921952, ss5624145697, ss5637232917, ss5799642064, ss5800120392, ss5834552750, ss5848042198, ss5848623744, ss5936526680, ss5965648769, ss5980280918, ss5981226957	NC_000005.9:13931339:C:T	NC_000005.10:13931230:C:T	(self)
RCV000150490.8, RCV000347580.9, RCV001095037.6, RCV001705995.1, 33576773, 180580781, 2814031, 12514514, 409571, 40020874, 487773153, 5798243381, ss2271573548, ss3025217459, ss3714151298, ss3726215079, ss3771188102, ss3806264119, ss3956136513, ss4650395596, ss5237011588, ss5237184991, ss5237643312, ss5262958251, ss5314412223, ss5461298412, ss5546050838, ss5706183770, ss5806042315, ss5854694905, ss5893089436	NC_000005.10:13931230:C:T	NC_000005.10:13931230:C:T	(self)
ss2371246, ss23982636, ss44679915, ss66640061, ss67126112, ss67465182, ss68927942, ss70440593, ss70628983, ss71178782, ss74809023, ss75506856, ss83819139, ss104170080, ss121738174, ss153494974, ss155068954, ss159281123, ss159709132, ss160367606, ss170613114, ss172561473	NT_006576.16:13921339:C:T	NC_000005.10:13931230:C:T	(self)
ss14812884	NT_023089.13:13914077:C:T	NC_000005.10:13931230:C:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

2 citations for rs1530496

PMID	Title	Author	Year	Journal
24033266	A systematic approach to assessing the clinical significance of genetic variants.	Duzkale H et al.	2013	Clinical genetics
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1530496