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dbSNP Short Genetic Variations

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.

rs6414624

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr4:5741785 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.27759 (34856/125568, TOPMED)
T=0.20494 (24719/120614, ExAC)
T=0.2643 (8164/30886, GnomAD) (+ 5 more)
T=0.2931 (3808/12994, GO-ESP)
T=0.255 (1278/5008, 1000G)
T=0.212 (948/4480, Estonian)
T=0.200 (771/3854, ALSPAC)
T=0.186 (688/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
EVC : Missense Variant
Publications
4 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 4 NC_000004.12:g.5741785T>C
GRCh37.p13 chr 4 NC_000004.11:g.5743512T>C
EVC RefSeqGene NG_008843.1:g.35589T>C
Gene: EVC, EvC ciliary complex subunit 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
EVC transcript variant 1 NM_153717.2:c.772T>C Y [TAC] > H [CAC] Coding Sequence Variant
ellis-van Creveld syndrome protein isoform 1 NP_714928.1:p.Tyr258His Y (Tyr) > H (His) Missense Variant
EVC transcript variant 2 NM_001306090.1:c.772T>C Y [TAC] > H [CAC] Coding Sequence Variant
ellis-van Creveld syndrome protein isoform 2 NP_001293019.1:p.Tyr258His Y (Tyr) > H (His) Missense Variant
EVC transcript variant 3 NM_001306092.1:c.772T>C Y [TAC] > H [CAC] Coding Sequence Variant
ellis-van Creveld syndrome protein isoform 3 NP_001293021.1:p.Tyr258His Y (Tyr) > H (His) Missense Variant
EVC transcript variant X16 XM_006713865.3:c.772T>C Y [TAC] > H [CAC] Coding Sequence Variant
ellis-van Creveld syndrome protein isoform X1 XP_006713928.1:p.Tyr258His Y (Tyr) > H (His) Missense Variant
EVC transcript variant X17 XM_006713866.3:c.772T>C Y [TAC] > H [CAC] Coding Sequence Variant
ellis-van Creveld syndrome protein isoform X2 XP_006713929.1:p.Tyr258His Y (Tyr) > H (His) Missense Variant
EVC transcript variant X20 XM_011513419.2:c.772T>C Y [TAC] > H [CAC] Coding Sequence Variant
ellis-van Creveld syndrome protein isoform X3 XP_011511721.1:p.Tyr258His Y (Tyr) > H (His) Missense Variant
EVC transcript variant X21 XM_017007883.2:c.772T>C Y [TAC] > H [CAC] Coding Sequence Variant
ellis-van Creveld syndrome protein isoform X4 XP_016863372.1:p.Tyr258His Y (Tyr) > H (His) Missense Variant
EVC transcript variant X1 XR_924920.2:n.952T>C N/A Non Coding Transcript Variant
EVC transcript variant X2 XR_001741164.1:n.952T>C N/A Non Coding Transcript Variant
EVC transcript variant X3 XR_924925.2:n.952T>C N/A Non Coding Transcript Variant
EVC transcript variant X4 XR_924921.2:n.952T>C N/A Non Coding Transcript Variant
EVC transcript variant X5 XR_924922.2:n.952T>C N/A Non Coding Transcript Variant
EVC transcript variant X6 XR_427476.3:n.952T>C N/A Non Coding Transcript Variant
EVC transcript variant X7 XR_924924.2:n.952T>C N/A Non Coding Transcript Variant
EVC transcript variant X8 XR_001741165.1:n.952T>C N/A Non Coding Transcript Variant
EVC transcript variant X9 XR_001741166.1:n.952T>C N/A Non Coding Transcript Variant
EVC transcript variant X10 XR_924926.2:n.952T>C N/A Non Coding Transcript Variant
EVC transcript variant X11 XR_427473.3:n.952T>C N/A Non Coding Transcript Variant
EVC transcript variant X12 XR_001741167.1:n.952T>C N/A Non Coding Transcript Variant
EVC transcript variant X13 XR_427475.3:n.952T>C N/A Non Coding Transcript Variant
EVC transcript variant X14 XR_001741168.1:n.952T>C N/A Non Coding Transcript Variant
EVC transcript variant X18 XR_001741170.1:n.954T>C N/A Non Coding Transcript Variant
EVC transcript variant X15 XR_001741169.2:n.954T>C N/A Non Coding Transcript Variant
EVC transcript variant X19 XR_001741171.1:n. N/A Genic Upstream Transcript 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.

Allele: C (allele ID: 195443 )
ClinVar Accession Disease Names Clinical Significance
RCV000179558.3 not specified Benign
RCV000297646.1 Ellis-van Creveld Syndrome Benign
RCV000400923.1 Curry-Hall syndrome Benign
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
TopMed Global Study-wide 125568 T=0.27759 C=0.72241
ExAC Global Study-wide 120614 T=0.20494 C=0.79506
ExAC Europe Sub 72984 T=0.1923 C=0.8077
ExAC Asian Sub 25092 T=0.1443 C=0.8557
ExAC American Sub 11524 T=0.1892 C=0.8108
ExAC African Sub 10114 T=0.4649 C=0.5351
ExAC Other Sub 900 T=0.20 C=0.80
gnomAD - Genomes Global Study-wide 30886 T=0.2643 C=0.7357
gnomAD - Genomes European Sub 18456 T=0.1947 C=0.8053
gnomAD - Genomes African Sub 8704 T=0.460 C=0.540
gnomAD - Genomes East Asian Sub 1620 T=0.083 C=0.917
gnomAD - Genomes Other Sub 974 T=0.19 C=0.81
gnomAD - Genomes American Sub 832 T=0.21 C=0.79
gnomAD - Genomes Ashkenazi Jewish Sub 300 T=0.24 C=0.76
GO Exome Sequencing Project Global Study-wide 12994 T=0.2931 C=0.7069
GO Exome Sequencing Project European American Sub 8590 T=0.197 C=0.803
GO Exome Sequencing Project African American Sub 4404 T=0.481 C=0.519
1000Genomes Global Study-wide 5008 T=0.255 C=0.745
1000Genomes African Sub 1322 T=0.498 C=0.502
1000Genomes East Asian Sub 1008 T=0.095 C=0.905
1000Genomes Europe Sub 1006 T=0.207 C=0.793
1000Genomes South Asian Sub 978 T=0.17 C=0.83
1000Genomes American Sub 694 T=0.22 C=0.78
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.212 C=0.788
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.200 C=0.800
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.186 C=0.814
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 T= C Note
GRCh38.p12 chr 4 NC_000004.12:g.5741785T= NC_000004.12:g.5741785T>C
GRCh37.p13 chr 4 NC_000004.11:g.5743512T= NC_000004.11:g.5743512T>C
EVC RefSeqGene NG_008843.1:g.35589T= NG_008843.1:g.35589T>C
EVC transcript variant 1 NM_153717.2:c.772T= NM_153717.2:c.772T>C
EVC transcript variant 2 NM_001306090.1:c.772T= NM_001306090.1:c.772T>C
EVC transcript variant 3 NM_001306092.1:c.772T= NM_001306092.1:c.772T>C
EVC transcript variant X6 XR_427476.3:n.952T= XR_427476.3:n.952T>C
EVC transcript variant X11 XR_427473.3:n.952T= XR_427473.3:n.952T>C
EVC transcript variant X13 XR_427475.3:n.952T= XR_427475.3:n.952T>C
EVC transcript variant X16 XM_006713865.3:c.772T= XM_006713865.3:c.772T>C
EVC transcript variant X17 XM_006713866.3:c.772T= XM_006713866.3:c.772T>C
EVC transcript variant X15 XR_001741169.2:n.954T= XR_001741169.2:n.954T>C
EVC transcript variant X3 XR_924925.2:n.952T= XR_924925.2:n.952T>C
EVC transcript variant X1 XR_924920.2:n.952T= XR_924920.2:n.952T>C
EVC transcript variant X5 XR_924922.2:n.952T= XR_924922.2:n.952T>C
EVC transcript variant X4 XR_924921.2:n.952T= XR_924921.2:n.952T>C
EVC transcript variant X7 XR_924924.2:n.952T= XR_924924.2:n.952T>C
EVC transcript variant X10 XR_924926.2:n.952T= XR_924926.2:n.952T>C
EVC transcript variant X21 XM_017007883.2:c.772T= XM_017007883.2:c.772T>C
EVC transcript variant X20 XM_011513419.2:c.772T= XM_011513419.2:c.772T>C
EVC transcript variant X14 XR_001741168.1:n.952T= XR_001741168.1:n.952T>C
EVC transcript variant X2 XR_001741164.1:n.952T= XR_001741164.1:n.952T>C
EVC transcript variant X8 XR_001741165.1:n.952T= XR_001741165.1:n.952T>C
EVC transcript variant X9 XR_001741166.1:n.952T= XR_001741166.1:n.952T>C
EVC transcript variant X12 XR_001741167.1:n.952T= XR_001741167.1:n.952T>C
EVC transcript variant X18 XR_001741170.1:n.954T= XR_001741170.1:n.954T>C
ellis-van Creveld syndrome protein isoform 1 NP_714928.1:p.Tyr258= NP_714928.1:p.Tyr258His
ellis-van Creveld syndrome protein isoform 2 NP_001293019.1:p.Tyr258= NP_001293019.1:p.Tyr258His
ellis-van Creveld syndrome protein isoform 3 NP_001293021.1:p.Tyr258= NP_001293021.1:p.Tyr258His
ellis-van Creveld syndrome protein isoform X1 XP_006713928.1:p.Tyr258= XP_006713928.1:p.Tyr258His
ellis-van Creveld syndrome protein isoform X2 XP_006713929.1:p.Tyr258= XP_006713929.1:p.Tyr258His
ellis-van Creveld syndrome protein isoform X4 XP_016863372.1:p.Tyr258= XP_016863372.1:p.Tyr258His
ellis-van Creveld syndrome protein isoform X3 XP_011511721.1:p.Tyr258= XP_011511721.1:p.Tyr258His
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#.

120 SubSNP, 8 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss10149845 Jul 11, 2003 (116)
2 SC_JCM ss11236459 Jul 11, 2003 (116)
3 WI_SSAHASNP ss11658435 Jul 11, 2003 (116)
4 WI_SSAHASNP ss14609405 Dec 05, 2003 (119)
5 SSAHASNP ss22207039 Apr 05, 2004 (121)
6 ABI ss44545837 Mar 15, 2006 (126)
7 ILLUMINA ss66590616 Dec 01, 2006 (127)
8 ILLUMINA ss67450788 Dec 01, 2006 (127)
9 ILLUMINA ss67802467 Dec 01, 2006 (127)
10 PERLEGEN ss68889100 May 17, 2007 (127)
11 ILLUMINA ss70862505 May 23, 2008 (130)
12 ILLUMINA ss71449998 May 17, 2007 (127)
13 ILLUMINA ss74959993 Dec 07, 2007 (129)
14 SI_EXO ss76884051 Dec 07, 2007 (129)
15 HGSV ss78447703 Dec 07, 2007 (129)
16 ILLUMINA ss79219225 Dec 14, 2007 (130)
17 HGSV ss80176542 Dec 14, 2007 (130)
18 KRIBB_YJKIM ss84471788 Dec 14, 2007 (130)
19 BCMHGSC_JDW ss92452273 Mar 24, 2008 (129)
20 HUMANGENOME_JCVI ss98797543 Feb 04, 2009 (130)
21 BGI ss105801744 Feb 04, 2009 (130)
22 1000GENOMES ss111712075 Jan 25, 2009 (130)
23 1000GENOMES ss112873964 Jan 25, 2009 (130)
24 ILLUMINA-UK ss116852323 Dec 01, 2009 (131)
25 ILLUMINA ss122530815 Dec 01, 2009 (131)
26 ENSEMBL ss133382562 Dec 01, 2009 (131)
27 ENSEMBL ss139417016 Dec 01, 2009 (131)
28 ILLUMINA ss154357584 Dec 01, 2009 (131)
29 GMI ss156799641 Dec 01, 2009 (131)
30 ILLUMINA ss159533836 Dec 01, 2009 (131)
31 SEATTLESEQ ss159707190 Dec 01, 2009 (131)
32 ILLUMINA ss160771222 Dec 01, 2009 (131)
33 COMPLETE_GENOMICS ss163035699 Jul 04, 2010 (132)
34 COMPLETE_GENOMICS ss166062133 Jul 04, 2010 (132)
35 ILLUMINA ss172115680 Jul 04, 2010 (132)
36 ILLUMINA ss173995577 Jul 04, 2010 (132)
37 BUSHMAN ss197962124 Jul 04, 2010 (132)
38 BCM-HGSC-SUB ss206461835 Jul 04, 2010 (132)
39 1000GENOMES ss220714856 Jul 14, 2010 (132)
40 1000GENOMES ss232239795 Jul 14, 2010 (132)
41 1000GENOMES ss239566039 Jul 15, 2010 (132)
42 ILLUMINA ss244304771 Jul 04, 2010 (132)
43 BL ss252897210 May 09, 2011 (134)
44 GMI ss277556264 May 04, 2012 (137)
45 GMI ss284836511 Apr 25, 2013 (138)
46 NHLBI-ESP ss342159014 May 09, 2011 (134)
47 ILLUMINA ss410883874 Jul 19, 2016 (147)
48 ILLUMINA ss481233699 May 04, 2012 (137)
49 ILLUMINA ss481257313 May 04, 2012 (137)
50 ILLUMINA ss482243538 Sep 08, 2015 (146)
51 ILLUMINA ss485412209 May 04, 2012 (137)
52 1000GENOMES ss490883517 May 04, 2012 (137)
53 EXOME_CHIP ss491353122 May 04, 2012 (137)
54 CLINSEQ_SNP ss491850885 May 04, 2012 (137)
55 ILLUMINA ss537345948 Sep 08, 2015 (146)
56 TISHKOFF ss557277789 Apr 25, 2013 (138)
57 SSMP ss651034741 Apr 25, 2013 (138)
58 ILLUMINA ss778938929 Sep 08, 2015 (146)
59 ILLUMINA ss780826745 Sep 08, 2015 (146)
60 ILLUMINA ss783151551 Sep 08, 2015 (146)
61 ILLUMINA ss783509500 Sep 08, 2015 (146)
62 ILLUMINA ss784107501 Sep 08, 2015 (146)
63 ILLUMINA ss825549743 Apr 01, 2015 (144)
64 ILLUMINA ss832410761 Sep 08, 2015 (146)
65 ILLUMINA ss834400615 Sep 08, 2015 (146)
66 JMKIDD_LAB ss974451736 Aug 21, 2014 (142)
67 EVA-GONL ss979711072 Aug 21, 2014 (142)
68 JMKIDD_LAB ss1067459471 Aug 21, 2014 (142)
69 JMKIDD_LAB ss1071239962 Aug 21, 2014 (142)
70 1000GENOMES ss1308236704 Aug 21, 2014 (142)
71 HAMMER_LAB ss1397365898 Sep 08, 2015 (146)
72 DDI ss1429754429 Apr 01, 2015 (144)
73 EVA_GENOME_DK ss1580393851 Apr 01, 2015 (144)
74 EVA_FINRISK ss1584033155 Apr 01, 2015 (144)
75 EVA_DECODE ss1589205637 Apr 01, 2015 (144)
76 EVA_UK10K_ALSPAC ss1609307674 Apr 01, 2015 (144)
77 EVA_UK10K_TWINSUK ss1652301707 Apr 01, 2015 (144)
78 EVA_EXAC ss1687413559 Apr 01, 2015 (144)
79 EVA_MGP ss1711051364 Apr 01, 2015 (144)
80 EVA_SVP ss1712647840 Apr 01, 2015 (144)
81 ILLUMINA ss1752526152 Sep 08, 2015 (146)
82 ILLUMINA ss1752526153 Sep 08, 2015 (146)
83 HAMMER_LAB ss1800948653 Sep 08, 2015 (146)
84 ILLUMINA ss1917778182 Feb 12, 2016 (147)
85 WEILL_CORNELL_DGM ss1922946455 Feb 12, 2016 (147)
86 ILLUMINA ss1946108924 Feb 12, 2016 (147)
87 GENOMED ss1969645727 Jul 19, 2016 (147)
88 JJLAB ss2022045057 Sep 14, 2016 (149)
89 USC_VALOUEV ss2150155371 Dec 20, 2016 (150)
90 HUMAN_LONGEVITY ss2260084202 Dec 20, 2016 (150)
91 TOPMED ss2427518407 Dec 20, 2016 (150)
92 SYSTEMSBIOZJU ss2625524610 Nov 08, 2017 (151)
93 ILLUMINA ss2634075536 Nov 08, 2017 (151)
94 GRF ss2705592517 Nov 08, 2017 (151)
95 GNOMAD ss2747199039 Nov 08, 2017 (151)
96 GNOMAD ss2805104049 Nov 08, 2017 (151)
97 SWEGEN ss2994056762 Nov 08, 2017 (151)
98 ILLUMINA ss3022341864 Nov 08, 2017 (151)
99 BIOINF_KMB_FNS_UNIBA ss3024791704 Nov 08, 2017 (151)
100 CSHL ss3345518104 Nov 08, 2017 (151)
101 TOPMED ss3419145503 Nov 08, 2017 (151)
102 ILLUMINA ss3628891291 Oct 12, 2018 (152)
103 ILLUMINA ss3628891292 Oct 12, 2018 (152)
104 ILLUMINA ss3632014657 Oct 12, 2018 (152)
105 ILLUMINA ss3633324201 Oct 12, 2018 (152)
106 ILLUMINA ss3634042730 Oct 12, 2018 (152)
107 ILLUMINA ss3634938831 Oct 12, 2018 (152)
108 ILLUMINA ss3634938832 Oct 12, 2018 (152)
109 ILLUMINA ss3635725914 Oct 12, 2018 (152)
110 ILLUMINA ss3636637491 Oct 12, 2018 (152)
111 ILLUMINA ss3637478388 Oct 12, 2018 (152)
112 ILLUMINA ss3638469317 Oct 12, 2018 (152)
113 ILLUMINA ss3639236991 Oct 12, 2018 (152)
114 ILLUMINA ss3639638755 Oct 12, 2018 (152)
115 ILLUMINA ss3640646127 Oct 12, 2018 (152)
116 ILLUMINA ss3640646128 Oct 12, 2018 (152)
117 ILLUMINA ss3644841624 Oct 12, 2018 (152)
118 OMUKHERJEE_ADBS ss3646301068 Oct 12, 2018 (152)
119 URBANLAB ss3647640193 Oct 12, 2018 (152)
120 ILLUMINA ss3652824492 Oct 12, 2018 (152)
121 1000Genomes NC_000004.11 - 5743512 Oct 12, 2018 (152)
122 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 5743512 Oct 12, 2018 (152)
123 Genetic variation in the Estonian population NC_000004.11 - 5743512 Oct 12, 2018 (152)
124 ExAC NC_000004.11 - 5743512 Oct 12, 2018 (152)
125 gnomAD - Genomes NC_000004.11 - 5743512 Oct 12, 2018 (152)
126 GO Exome Sequencing Project NC_000004.11 - 5743512 Oct 12, 2018 (152)
127 TopMed NC_000004.12 - 5741785 Oct 12, 2018 (152)
128 UK 10K study - Twins NC_000004.11 - 5743512 Oct 12, 2018 (152)
129 ClinVar RCV000179558.3 Oct 12, 2018 (152)
130 ClinVar RCV000297646.1 Oct 12, 2018 (152)
131 ClinVar RCV000400923.1 Oct 12, 2018 (152)
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).

Associated ID History Updated (Build)
rs57157110 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss78447703, ss80176542, ss3639236991, ss3639638755 NC_000004.9:5861583:T:C NC_000004.12:5741784:T:C (self)
ss92452273, ss111712075, ss112873964, ss116852323, ss163035699, ss166062133, ss197962124, ss206461835, ss252897210, ss277556264, ss284836511, ss481233699, ss491850885, ss825549743, ss1397365898, ss1589205637, ss1712647840 NC_000004.10:5794412:T:C NC_000004.12:5741784:T:C (self)
19579175, 10906347, 7721831, 7371293, 145731804, 457406, 10906347, ss220714856, ss232239795, ss239566039, ss342159014, ss481257313, ss482243538, ss485412209, ss490883517, ss491353122, ss537345948, ss557277789, ss651034741, ss778938929, ss780826745, ss783151551, ss783509500, ss784107501, ss832410761, ss834400615, ss974451736, ss979711072, ss1067459471, ss1071239962, ss1308236704, ss1429754429, ss1580393851, ss1584033155, ss1609307674, ss1652301707, ss1687413559, ss1711051364, ss1752526152, ss1752526153, ss1800948653, ss1917778182, ss1922946455, ss1946108924, ss1969645727, ss2022045057, ss2150155371, ss2427518407, ss2625524610, ss2634075536, ss2705592517, ss2747199039, ss2805104049, ss2994056762, ss3022341864, ss3345518104, ss3628891291, ss3628891292, ss3632014657, ss3633324201, ss3634042730, ss3634938831, ss3634938832, ss3635725914, ss3636637491, ss3637478388, ss3638469317, ss3640646127, ss3640646128, ss3644841624, ss3646301068, ss3652824492 NC_000004.11:5743511:T:C NC_000004.12:5741784:T:C (self)
RCV000179558.3, RCV000297646.1, RCV000400923.1, 274249044, ss2260084202, ss3024791704, ss3419145503, ss3647640193 NC_000004.12:5741784:T:C NC_000004.12:5741784:T:C (self)
ss10149845, ss11236459, ss11658435 NT_006051.15:1791865:T:C NC_000004.12:5741784:T:C (self)
ss14609405, ss22207039 NT_006051.16:1830956:T:C NC_000004.12:5741784:T:C (self)
ss76884051 NT_006051.17:1830956:T:C NC_000004.12:5741784:T:C (self)
ss44545837, ss66590616, ss67450788, ss67802467, ss68889100, ss70862505, ss71449998, ss74959993, ss79219225, ss84471788, ss98797543, ss105801744, ss122530815, ss133382562, ss139417016, ss154357584, ss156799641, ss159533836, ss159707190, ss160771222, ss172115680, ss173995577, ss244304771, ss410883874 NT_006051.18:4264865:T:C NC_000004.12:5741784:T:C (self)
Help

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

4 citations for rs6414624
PMID Title Author Year Journal
18947413 Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene. Ulucan H et al. 2008 BMC medical genetics
20184732 Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates. Ali BR et al. 2010 BMC medical 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
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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.post104+4a6ee9c