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dbSNP Short Genetic Variations

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 Aliases 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.

rs78964247

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr16:71186891 (GRCh38.p12) 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
G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.03372 (8282/245642, GnomAD_exome)
T=0.01715 (2153/125568, TOPMED)
T=0.03524 (4255/120732, ExAC) (+ 9 more)
T=0.0460 (3621/78702, PAGE_STUDY)
T=0.0131 (412/31338, GnomAD)
T=0.0051 (66/12996, GO-ESP)
T=0.066 (330/5008, 1000G)
T=0.007 (32/4480, Estonian)
T=0.007 (27/3854, ALSPAC)
T=0.005 (18/3708, TWINSUK)
T=0.01 (8/600, NorthernSweden)
T=0.15 (31/212, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
HYDIN : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
Help

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.p12 chr 16 NC_000016.10:g.71186891G>C
GRCh38.p12 chr 16 NC_000016.10:g.71186891G>T
GRCh37.p13 chr 16 NC_000016.9:g.71220794G>C
GRCh37.p13 chr 16 NC_000016.9:g.71220794G>T
HYDIN RefSeqGene NG_033116.2:g.48832C>G
HYDIN RefSeqGene NG_033116.2:g.48832C>A
chr 16 novel patch HSCHR16_4_CTG3_1 NW_013171813.1:g.49600G>C
chr 16 novel patch HSCHR16_4_CTG3_1 NW_013171813.1:g.49600G>T
Gene: HYDIN, HYDIN axonemal central pair apparatus protein (minus strand)
Molecule type Change Amino acid[Codon] SO Term
HYDIN transcript variant 3 NM_001198542.1:c.86C>G T [ACA] > R [AGA] Coding Sequence Variant
hydrocephalus-inducing protein homolog isoform c NP_001185471.1:p.Thr29Arg T (Thr) > R (Arg) Missense Variant
HYDIN transcript variant 3 NM_001198542.1:c.86C>A T [ACA] > K [AAA] Coding Sequence Variant
hydrocephalus-inducing protein homolog isoform c NP_001185471.1:p.Thr29Lys T (Thr) > K (Lys) Missense Variant
HYDIN transcript variant 4 NM_001198543.1:c.56C>G T [ACA] > R [AGA] Coding Sequence Variant
hydrocephalus-inducing protein homolog isoform d NP_001185472.1:p.Thr19Arg T (Thr) > R (Arg) Missense Variant
HYDIN transcript variant 4 NM_001198543.1:c.56C>A T [ACA] > K [AAA] Coding Sequence Variant
hydrocephalus-inducing protein homolog isoform d NP_001185472.1:p.Thr19Lys T (Thr) > K (Lys) Missense Variant
HYDIN transcript variant 1 NM_001270974.2:c.5C>G T [ACA] > R [AGA] Coding Sequence Variant
hydrocephalus-inducing protein homolog isoform a NP_001257903.1:p.Thr2Arg T (Thr) > R (Arg) Missense Variant
HYDIN transcript variant 1 NM_001270974.2:c.5C>A T [ACA] > K [AAA] Coding Sequence Variant
hydrocephalus-inducing protein homolog isoform a NP_001257903.1:p.Thr2Lys T (Thr) > K (Lys) Missense Variant
HYDIN transcript variant 2 NM_017558.5:c.5C>G T [ACA] > R [AGA] Coding Sequence Variant
hydrocephalus-inducing protein homolog isoform b NP_060028.2:p.Thr2Arg T (Thr) > R (Arg) Missense Variant
HYDIN transcript variant 2 NM_017558.5:c.5C>A T [ACA] > K [AAA] Coding Sequence Variant
hydrocephalus-inducing protein homolog isoform b NP_060028.2:p.Thr2Lys T (Thr) > K (Lys) Missense Variant
HYDIN transcript variant X9 XM_011523152.1:c. N/A Genic Upstream Transcript Variant
HYDIN transcript variant X10 XM_011523155.2:c. N/A Genic Upstream Transcript Variant
HYDIN transcript variant X7 XM_017023347.1:c. N/A Genic Upstream Transcript Variant
HYDIN transcript variant X8 XM_017023348.1:c. N/A Genic Upstream Transcript Variant
HYDIN transcript variant X2 XM_011523147.1:c.56C>G T [ACA] > R [AGA] Coding Sequence Variant
hydrocephalus-inducing protein homolog isoform X2 XP_011521449.1:p.Thr19Arg T (Thr) > R (Arg) Missense Variant
HYDIN transcript variant X2 XM_011523147.1:c.56C>A T [ACA] > K [AAA] Coding Sequence Variant
hydrocephalus-inducing protein homolog isoform X2 XP_011521449.1:p.Thr19Lys T (Thr) > K (Lys) Missense Variant
HYDIN transcript variant X4 XM_011523148.1:c.5C>G T [ACA] > R [AGA] Coding Sequence Variant
hydrocephalus-inducing protein homolog isoform X4 XP_011521450.1:p.Thr2Arg T (Thr) > R (Arg) Missense Variant
HYDIN transcript variant X4 XM_011523148.1:c.5C>A T [ACA] > K [AAA] Coding Sequence Variant
hydrocephalus-inducing protein homolog isoform X4 XP_011521450.1:p.Thr2Lys T (Thr) > K (Lys) Missense Variant
HYDIN transcript variant X1 XM_011523146.2:c.86C>G T [ACA] > R [AGA] Coding Sequence Variant
hydrocephalus-inducing protein homolog isoform X1 XP_011521448.1:p.Thr29Arg T (Thr) > R (Arg) Missense Variant
HYDIN transcript variant X1 XM_011523146.2:c.86C>A T [ACA] > K [AAA] Coding Sequence Variant
hydrocephalus-inducing protein homolog isoform X1 XP_011521448.1:p.Thr29Lys T (Thr) > K (Lys) Missense Variant
HYDIN transcript variant X3 XM_017023346.2:c.125C>G T [ACA] > R [AGA] Coding Sequence Variant
hydrocephalus-inducing protein homolog isoform X3 XP_016878835.1:p.Thr42Arg T (Thr) > R (Arg) Missense Variant
HYDIN transcript variant X3 XM_017023346.2:c.125C>A T [ACA] > K [AAA] Coding Sequence Variant
hydrocephalus-inducing protein homolog isoform X3 XP_016878835.1:p.Thr42Lys T (Thr) > K (Lys) Missense Variant
HYDIN transcript variant X5 XM_011523151.2:c.86C>G T [ACA] > R [AGA] Coding Sequence Variant
hydrocephalus-inducing protein homolog isoform X5 XP_011521453.1:p.Thr29Arg T (Thr) > R (Arg) Missense Variant
HYDIN transcript variant X5 XM_011523151.2:c.86C>A T [ACA] > K [AAA] Coding Sequence Variant
hydrocephalus-inducing protein homolog isoform X5 XP_011521453.1:p.Thr29Lys T (Thr) > K (Lys) Missense Variant
HYDIN transcript variant X6 XM_006721206.3:c.56C>G T [ACA] > R [AGA] Coding Sequence Variant
hydrocephalus-inducing protein homolog isoform X6 XP_006721269.1:p.Thr19Arg T (Thr) > R (Arg) Missense Variant
HYDIN transcript variant X6 XM_006721206.3:c.56C>A T [ACA] > K [AAA] Coding Sequence Variant
hydrocephalus-inducing protein homolog isoform X6 XP_006721269.1:p.Thr19Lys T (Thr) > K (Lys) Missense Variant
Help

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.

Not Reported in ClinVar
Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 245642 G=0.96628 T=0.03372
gnomAD - Exomes European Sub 133308 G=0.99477 T=0.00523
gnomAD - Exomes Asian Sub 47016 G=0.8641 T=0.1359
gnomAD - Exomes American Sub 33384 G=0.9698 T=0.0302
gnomAD - Exomes African Sub 16148 G=0.9965 T=0.0035
gnomAD - Exomes Ashkenazi Jewish Sub 9820 G=0.999 T=0.001
gnomAD - Exomes Other Sub 5966 G=0.981 T=0.019
TopMed Global Study-wide 125568 G=0.98285 T=0.01715
ExAC Global Study-wide 120732 G=0.96476 T=0.03524
ExAC Europe Sub 72974 G=0.9949 T=0.0051
ExAC Asian Sub 25044 G=0.8615 T=0.1385
ExAC American Sub 11488 G=0.9691 T=0.0309
ExAC African Sub 10318 G=0.9962 T=0.0038
ExAC Other Sub 908 G=0.98 T=0.02
The PAGE Study Global Study-wide 78702 G=0.9540 T=0.0460
The PAGE Study AfricanAmerican Sub 32516 G=0.9947 T=0.0053
The PAGE Study Mexican Sub 10810 G=0.9725 T=0.0275
The PAGE Study Asian Sub 8318 G=0.824 T=0.176
The PAGE Study PuertoRican Sub 7918 G=0.987 T=0.013
The PAGE Study NativeHawaiian Sub 4534 G=0.728 T=0.272
The PAGE Study Cuban Sub 4230 G=0.992 T=0.008
The PAGE Study Dominican Sub 3828 G=0.988 T=0.012
The PAGE Study CentralAmerican Sub 2450 G=0.973 T=0.027
The PAGE Study SouthAmerican Sub 1982 G=0.971 T=0.029
The PAGE Study NativeAmerican Sub 1260 G=0.978 T=0.022
The PAGE Study SouthAsian Sub 856 G=0.86 T=0.14
gnomAD - Genomes Global Study-wide 31338 G=0.9869 T=0.0131
gnomAD - Genomes European Sub 18864 G=0.9953 T=0.0047
gnomAD - Genomes African Sub 8698 G=0.997 T=0.003
gnomAD - Genomes East Asian Sub 1558 G=0.831 T=0.169
gnomAD - Genomes Other Sub 1082 G=0.988 T=0.012
gnomAD - Genomes American Sub 846 G=0.98 T=0.02
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=1.00 T=0.00
GO Exome Sequencing Project Global Study-wide 12996 G=0.9949 T=0.0051
GO Exome Sequencing Project European American Sub 8600 G=0.995 T=0.005
GO Exome Sequencing Project African American Sub 4396 G=0.995 T=0.005
1000Genomes Global Study-wide 5008 G=0.934 T=0.066
1000Genomes African Sub 1322 G=0.996 T=0.004
1000Genomes East Asian Sub 1008 G=0.840 T=0.160
1000Genomes Europe Sub 1006 G=0.995 T=0.005
1000Genomes South Asian Sub 978 G=0.85 T=0.15
1000Genomes American Sub 694 G=0.98 T=0.02
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.993 T=0.007
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.993 T=0.007
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.995 T=0.005
Northern Sweden ACPOP Study-wide 600 G=0.99 T=0.01
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.85 T=0.15
Help

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 G= C T Note
GRCh38.p12 chr 16 NC_000016.10:g.71...

NC_000016.10:g.71186891=

NC_000016.10:g.71...

NC_000016.10:g.71186891G>C

NC_000016.10:g.71...

NC_000016.10:g.71186891G>T

GRCh37.p13 chr 16 NC_000016.9:g.712...

NC_000016.9:g.71220794=

NC_000016.9:g.712...

NC_000016.9:g.71220794G>C

NC_000016.9:g.712...

NC_000016.9:g.71220794G>T

HYDIN RefSeqGene NG_033116.2:g.48832= NG_033116.2:g.488...

NG_033116.2:g.48832C>G

NG_033116.2:g.488...

NG_033116.2:g.48832C>A

HYDIN transcript variant 2 NM_017558.5:c.5= NM_017558.5:c.5C>G NM_017558.5:c.5C>A
HYDIN transcript variant 2 NM_017558.4:c.5= NM_017558.4:c.5C>G NM_017558.4:c.5C>A
HYDIN transcript variant 1 NM_001270974.2:c.5= NM_001270974.2:c....

NM_001270974.2:c.5C>G

NM_001270974.2:c....

NM_001270974.2:c.5C>A

HYDIN transcript variant 1 NM_001270974.1:c.5= NM_001270974.1:c....

NM_001270974.1:c.5C>G

NM_001270974.1:c....

NM_001270974.1:c.5C>A

HYDIN transcript variant 3 NM_001198542.1:c.86= NM_001198542.1:c....

NM_001198542.1:c.86C>G

NM_001198542.1:c....

NM_001198542.1:c.86C>A

HYDIN transcript variant 4 NM_001198543.1:c.56= NM_001198543.1:c....

NM_001198543.1:c.56C>G

NM_001198543.1:c....

NM_001198543.1:c.56C>A

chr 16 novel patch HSCHR16_4_CTG3_1 NW_013171813.1:g....

NW_013171813.1:g.49600=

NW_013171813.1:g....

NW_013171813.1:g.49600G>C

NW_013171813.1:g....

NW_013171813.1:g.49600G>T

HYDIN transcript variant X6 XM_006721206.3:c.56= XM_006721206.3:c....

XM_006721206.3:c.56C>G

XM_006721206.3:c....

XM_006721206.3:c.56C>A

HYDIN transcript variant X1 XM_011523146.2:c.86= XM_011523146.2:c....

XM_011523146.2:c.86C>G

XM_011523146.2:c....

XM_011523146.2:c.86C>A

HYDIN transcript variant X3 XM_017023346.2:c....

XM_017023346.2:c.125=

XM_017023346.2:c....

XM_017023346.2:c.125C>G

XM_017023346.2:c....

XM_017023346.2:c.125C>A

HYDIN transcript variant X5 XM_011523151.2:c.86= XM_011523151.2:c....

XM_011523151.2:c.86C>G

XM_011523151.2:c....

XM_011523151.2:c.86C>A

HYDIN transcript variant X4 XM_011523148.1:c.5= XM_011523148.1:c....

XM_011523148.1:c.5C>G

XM_011523148.1:c....

XM_011523148.1:c.5C>A

HYDIN transcript variant X2 XM_011523147.1:c.56= XM_011523147.1:c....

XM_011523147.1:c.56C>G

XM_011523147.1:c....

XM_011523147.1:c.56C>A

hydrocephalus-inducing protein homolog isoform b NP_060028.2:p.Thr2= NP_060028.2:p.Thr...

NP_060028.2:p.Thr2Arg

NP_060028.2:p.Thr...

NP_060028.2:p.Thr2Lys

hydrocephalus-inducing protein homolog isoform a NP_001257903.1:p....

NP_001257903.1:p.Thr2=

NP_001257903.1:p....

NP_001257903.1:p.Thr2Arg

NP_001257903.1:p....

NP_001257903.1:p.Thr2Lys

hydrocephalus-inducing protein homolog isoform c NP_001185471.1:p....

NP_001185471.1:p.Thr29=

NP_001185471.1:p....

NP_001185471.1:p.Thr29Arg

NP_001185471.1:p....

NP_001185471.1:p.Thr29Lys

hydrocephalus-inducing protein homolog isoform d NP_001185472.1:p....

NP_001185472.1:p.Thr19=

NP_001185472.1:p....

NP_001185472.1:p.Thr19Arg

NP_001185472.1:p....

NP_001185472.1:p.Thr19Lys

hydrocephalus-inducing protein homolog isoform X6 XP_006721269.1:p....

XP_006721269.1:p.Thr19=

XP_006721269.1:p....

XP_006721269.1:p.Thr19Arg

XP_006721269.1:p....

XP_006721269.1:p.Thr19Lys

hydrocephalus-inducing protein homolog isoform X1 XP_011521448.1:p....

XP_011521448.1:p.Thr29=

XP_011521448.1:p....

XP_011521448.1:p.Thr29Arg

XP_011521448.1:p....

XP_011521448.1:p.Thr29Lys

hydrocephalus-inducing protein homolog isoform X3 XP_016878835.1:p....

XP_016878835.1:p.Thr42=

XP_016878835.1:p....

XP_016878835.1:p.Thr42Arg

XP_016878835.1:p....

XP_016878835.1:p.Thr42Lys

hydrocephalus-inducing protein homolog isoform X5 XP_011521453.1:p....

XP_011521453.1:p.Thr29=

XP_011521453.1:p....

XP_011521453.1:p.Thr29Arg

XP_011521453.1:p....

XP_011521453.1:p.Thr29Lys

hydrocephalus-inducing protein homolog isoform X4 XP_011521450.1:p....

XP_011521450.1:p.Thr2=

XP_011521450.1:p....

XP_011521450.1:p.Thr2Arg

XP_011521450.1:p....

XP_011521450.1:p.Thr2Lys

hydrocephalus-inducing protein homolog isoform X2 XP_011521449.1:p....

XP_011521449.1:p.Thr19=

XP_011521449.1:p....

XP_011521449.1:p.Thr19Arg

XP_011521449.1:p....

XP_011521449.1:p.Thr19Lys

Help

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#.

54 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 ILLUMINA ss161057391 Dec 01, 2009 (131)
2 1000GENOMES ss243403941 Jul 15, 2010 (132)
3 GMI ss282582947 May 04, 2012 (137)
4 NHLBI-ESP ss342433052 May 09, 2011 (134)
5 ILLUMINA ss479226508 Sep 08, 2015 (146)
6 1000GENOMES ss491106844 May 04, 2012 (137)
7 EXOME_CHIP ss491510734 May 04, 2012 (137)
8 CLINSEQ_SNP ss491721953 May 04, 2012 (137)
9 ILLUMINA ss534144594 Sep 08, 2015 (146)
10 SSMP ss660757973 Apr 25, 2013 (138)
11 ILLUMINA ss780720328 Sep 08, 2015 (146)
12 ILLUMINA ss783395946 Sep 08, 2015 (146)
13 EVA-GONL ss992628102 Aug 21, 2014 (142)
14 JMKIDD_LAB ss1067563283 Aug 21, 2014 (142)
15 JMKIDD_LAB ss1080720147 Aug 21, 2014 (142)
16 1000GENOMES ss1356780667 Aug 21, 2014 (142)
17 EVA_UK10K_ALSPAC ss1634703070 Apr 01, 2015 (144)
18 EVA_UK10K_TWINSUK ss1677697103 Apr 01, 2015 (144)
19 EVA_EXAC ss1692389826 Apr 01, 2015 (144)
20 EVA_DECODE ss1696664561 Apr 01, 2015 (144)
21 EVA_MGP ss1711434462 Apr 01, 2015 (144)
22 ILLUMINA ss1752201715 Sep 08, 2015 (146)
23 ILLUMINA ss1917909438 Feb 12, 2016 (147)
24 WEILL_CORNELL_DGM ss1936059471 Feb 12, 2016 (147)
25 ILLUMINA ss1946418730 Feb 12, 2016 (147)
26 ILLUMINA ss1959692777 Feb 12, 2016 (147)
27 JJLAB ss2028813490 Sep 14, 2016 (149)
28 USC_VALOUEV ss2157255894 Dec 20, 2016 (150)
29 HUMAN_LONGEVITY ss2213256725 Dec 20, 2016 (150)
30 TOPMED ss2377998275 Dec 20, 2016 (150)
31 SYSTEMSBIOZJU ss2628898828 Nov 08, 2017 (151)
32 GRF ss2701785258 Nov 08, 2017 (151)
33 GNOMAD ss2742120394 Nov 08, 2017 (151)
34 GNOMAD ss2749583762 Nov 08, 2017 (151)
35 GNOMAD ss2944576314 Nov 08, 2017 (151)
36 SWEGEN ss3014734789 Nov 08, 2017 (151)
37 TOPMED ss3250139792 Nov 08, 2017 (151)
38 TOPMED ss3250139793 Nov 08, 2017 (151)
39 CSHL ss3351511260 Nov 08, 2017 (151)
40 ILLUMINA ss3627554028 Oct 12, 2018 (152)
41 ILLUMINA ss3627554029 Oct 12, 2018 (152)
42 ILLUMINA ss3634648553 Oct 12, 2018 (152)
43 ILLUMINA ss3636339835 Oct 12, 2018 (152)
44 ILLUMINA ss3640355873 Oct 12, 2018 (152)
45 ILLUMINA ss3644671816 Oct 12, 2018 (152)
46 OMUKHERJEE_ADBS ss3646496921 Oct 12, 2018 (152)
47 EGCUT_WGS ss3681710553 Jul 13, 2019 (153)
48 ACPOP ss3741624893 Jul 13, 2019 (153)
49 ILLUMINA ss3744434259 Jul 13, 2019 (153)
50 ILLUMINA ss3744948972 Jul 13, 2019 (153)
51 EVA ss3754096856 Jul 13, 2019 (153)
52 PAGE_CC ss3771889022 Jul 13, 2019 (153)
53 ILLUMINA ss3772447186 Jul 13, 2019 (153)
54 KHV_HUMAN_GENOMES ss3819380079 Jul 13, 2019 (153)
55 1000Genomes NC_000016.9 - 71220794 Oct 12, 2018 (152)
56 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 71220794 Oct 12, 2018 (152)
57 Genetic variation in the Estonian population NC_000016.9 - 71220794 Oct 12, 2018 (152)
58 ExAC NC_000016.9 - 71220794 Oct 12, 2018 (152)
59 gnomAD - Genomes NC_000016.9 - 71220794 Jul 13, 2019 (153)
60 gnomAD - Exomes NC_000016.9 - 71220794 Jul 13, 2019 (153)
61 GO Exome Sequencing Project NC_000016.9 - 71220794 Oct 12, 2018 (152)
62 Northern Sweden NC_000016.9 - 71220794 Jul 13, 2019 (153)
63 The PAGE Study NC_000016.10 - 71186891 Jul 13, 2019 (153)
64 TopMed NC_000016.10 - 71186891 Oct 12, 2018 (152)
65 UK 10K study - Twins NC_000016.9 - 71220794 Oct 12, 2018 (152)
66 A Vietnamese Genetic Variation Database NC_000016.9 - 71220794 Jul 13, 2019 (153)
Help

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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3250139792 NC_000016.10:71186890:G:C NC_000016.10:71186890:G:C (self)
ss282582947, ss491721953, ss1696664561 NC_000016.8:69778294:G:T NC_000016.10:71186890:G:T (self)
69962632, 38807981, 27448801, 2803856, 190934038, 11402075, 1490766, 14909758, 38807981, 8604251, ss243403941, ss342433052, ss479226508, ss491106844, ss491510734, ss534144594, ss660757973, ss780720328, ss783395946, ss992628102, ss1067563283, ss1080720147, ss1356780667, ss1634703070, ss1677697103, ss1692389826, ss1711434462, ss1752201715, ss1917909438, ss1936059471, ss1946418730, ss1959692777, ss2028813490, ss2157255894, ss2377998275, ss2628898828, ss2701785258, ss2742120394, ss2749583762, ss2944576314, ss3014734789, ss3351511260, ss3627554028, ss3627554029, ss3634648553, ss3636339835, ss3640355873, ss3644671816, ss3646496921, ss3681710553, ss3741624893, ss3744434259, ss3744948972, ss3754096856, ss3772447186 NC_000016.9:71220793:G:T NC_000016.10:71186890:G:T (self)
1110491, 147158700, ss2213256725, ss3250139793, ss3771889022, ss3819380079 NC_000016.10:71186890:G:T NC_000016.10:71186890:G:T (self)
ss161057391 NT_010498.15:24834992:G:T NC_000016.10:71186890:G:T (self)
Help

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

No publications for rs78964247

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.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post308+0fe9b3b