SNP Links for Nucleotide (Select 523580214) - SNP

Links from Nucleotide

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Select item 14904465991.

rs1490446599 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:106970017 (GRCh38)
10:108729775 (GRCh37)
Canonical SPDI:: NC_000010.11:106970016:T:C
Gene:: SORCS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.106970017T>C, NC_000010.10:g.108729775T>C, NG_029120.1:g.199692A>G, NG_033473.1:g.97T>C

Select item 14854594772.

rs1485459477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:106970067 (GRCh38)
10:108729825 (GRCh37)
Canonical SPDI:: NC_000010.11:106970066:G:A
Gene:: SORCS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000106/2 (TOMMO)
HGVS:: NC_000010.11:g.106970067G>A, NC_000010.10:g.108729825G>A, NG_029120.1:g.199642C>T, NG_033473.1:g.147G>A

Select item 14837960033.

rs1483796003 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:106970001 (GRCh38)
10:108729759 (GRCh37)
Canonical SPDI:: NC_000010.11:106970000:A:G
Gene:: SORCS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.106970001A>G, NC_000010.10:g.108729759A>G, NG_029120.1:g.199708T>C, NG_033473.1:g.81A>G

Select item 14722063724.

rs1472206372 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:106970040 (GRCh38)
10:108729798 (GRCh37)
Canonical SPDI:: NC_000010.11:106970039:T:A
Gene:: SORCS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.106970040T>A, NC_000010.10:g.108729798T>A, NG_029120.1:g.199669A>T, NG_033473.1:g.120T>A

Select item 14661703345.

rs1466170334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:106970142 (GRCh38)
10:108729900 (GRCh37)
Canonical SPDI:: NC_000010.11:106970141:C:A,NC_000010.11:106970141:C:T
Gene:: SORCS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
A=0.000684/2 (KOREAN)
A=0.002123/36 (TOMMO)
HGVS:: NC_000010.11:g.106970142C>A, NC_000010.11:g.106970142C>T, NC_000010.10:g.108729900C>A, NC_000010.10:g.108729900C>T, NG_029120.1:g.199567G>T, NG_029120.1:g.199567G>A, NG_033473.1:g.222C>A, NG_033473.1:g.222C>T

Select item 14276761106.

rs1427676110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:106970145 (GRCh38)
10:108729903 (GRCh37)
Canonical SPDI:: NC_000010.11:106970144:T:C
Gene:: SORCS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.106970145T>C, NC_000010.10:g.108729903T>C, NG_029120.1:g.199564A>G, NG_033473.1:g.225T>C

Select item 14244048647.

rs1424404864 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 10:106969990 (GRCh38)
10:108729748 (GRCh37)
Canonical SPDI:: NC_000010.11:106969989:AA:
Gene:: SORCS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.106969990_106969991del, NC_000010.10:g.108729748_108729749del, NG_029120.1:g.199718_199719del, NG_033473.1:g.70_71del

Select item 14211793098.

rs1421179309 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:106970203 (GRCh38)
10:108729961 (GRCh37)
Canonical SPDI:: NC_000010.11:106970202:A:G
Gene:: SORCS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.106970203A>G, NC_000010.10:g.108729961A>G, NG_029120.1:g.199506T>C, NG_033473.1:g.283A>G

Select item 14127053419.

rs1412705341 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:106970249 (GRCh38)
10:108730007 (GRCh37)
Canonical SPDI:: NC_000010.11:106970248:A:G
Gene:: SORCS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.106970249A>G, NC_000010.10:g.108730007A>G, NG_029120.1:g.199460T>C, NG_033473.1:g.329A>G

Select item 140654991210.

rs1406549912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:106969996 (GRCh38)
10:108729754 (GRCh37)
Canonical SPDI:: NC_000010.11:106969995:C:G
Gene:: SORCS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.106969996C>G, NC_000010.10:g.108729754C>G, NG_029120.1:g.199713G>C, NG_033473.1:g.76C>G

Select item 140460699511.

rs1404606995 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:106970037 (GRCh38)
10:108729795 (GRCh37)
Canonical SPDI:: NC_000010.11:106970036:C:A
Gene:: SORCS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.106970037C>A, NC_000010.10:g.108729795C>A, NG_029120.1:g.199672G>T, NG_033473.1:g.117C>A

Select item 140133135212.

rs1401331352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:106970235 (GRCh38)
10:108729993 (GRCh37)
Canonical SPDI:: NC_000010.11:106970234:C:A
Gene:: SORCS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.106970235C>A, NC_000010.10:g.108729993C>A, NG_029120.1:g.199474G>T, NG_033473.1:g.315C>A

Select item 139050253213.

rs1390502532 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:106970209 (GRCh38)
10:108729967 (GRCh37)
Canonical SPDI:: NC_000010.11:106970208:T:G
Gene:: SORCS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000038/10 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000010.11:g.106970209T>G, NC_000010.10:g.108729967T>G, NG_029120.1:g.199500A>C, NG_033473.1:g.289T>G

Select item 137900100014.

rs1379001000 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:106970143 (GRCh38)
10:108729901 (GRCh37)
Canonical SPDI:: NC_000010.11:106970142:T:C
Gene:: SORCS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.106970143T>C, NC_000010.10:g.108729901T>C, NG_029120.1:g.199566A>G, NG_033473.1:g.223T>C

Select item 136177173615.

rs1361771736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:106970102 (GRCh38)
10:108729860 (GRCh37)
Canonical SPDI:: NC_000010.11:106970101:G:T
Gene:: SORCS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.106970102G>T, NC_000010.10:g.108729860G>T, NG_029120.1:g.199607C>A, NG_033473.1:g.182G>T

Select item 135886727516.

rs1358867275 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:106969939 (GRCh38)
10:108729697 (GRCh37)
Canonical SPDI:: NC_000010.11:106969938:G:A
Gene:: SORCS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000114/16 (GnomAD)
A=0.000156/1 (1000Genomes)
A=0.000166/44 (TOPMED)
A=0.000354/6 (TOMMO)
A=0.001092/2 (Korea1K)
A=0.001369/4 (KOREAN)
HGVS:: NC_000010.11:g.106969939G>A, NC_000010.10:g.108729697G>A, NG_029120.1:g.199770C>T, NG_033473.1:g.19G>A

Select item 133993636717.

rs1339936367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:106970077 (GRCh38)
10:108729835 (GRCh37)
Canonical SPDI:: NC_000010.11:106970076:C:T
Gene:: SORCS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.106970077C>T, NC_000010.10:g.108729835C>T, NG_029120.1:g.199632G>A, NG_033473.1:g.157C>T

Select item 133672856918.

rs1336728569 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:106970192 (GRCh38)
10:108729950 (GRCh37)
Canonical SPDI:: NC_000010.11:106970191:A:T
Gene:: SORCS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.106970192A>T, NC_000010.10:g.108729950A>T, NG_029120.1:g.199517T>A, NG_033473.1:g.272A>T

Select item 132178381719.

rs1321783817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:106970109 (GRCh38)
10:108729867 (GRCh37)
Canonical SPDI:: NC_000010.11:106970108:G:A
Gene:: SORCS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.106970109G>A, NC_000010.10:g.108729867G>A, NG_029120.1:g.199600C>T, NG_033473.1:g.189G>A

Select item 131628183420.

rs1316281834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:106970021 (GRCh38)
10:108729779 (GRCh37)
Canonical SPDI:: NC_000010.11:106970020:C:A,NC_000010.11:106970020:C:T
Gene:: SORCS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.106970021C>A, NC_000010.11:g.106970021C>T, NC_000010.10:g.108729779C>A, NC_000010.10:g.108729779C>T, NG_029120.1:g.199688G>T, NG_029120.1:g.199688G>A, NG_033473.1:g.101C>A, NG_033473.1:g.101C>T

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Links from Nucleotide

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