SNP Links for Gene (Select 10285) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915856451.

rs1491585645 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 10:110298627 (GRCh38)
10:112058385 (GRCh37)
Canonical SPDI:: NC_000010.11:110298624:AGAG:AG
Gene:: SMNDC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.000071/1 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000038/10 (TOPMED)
-=0.000106/2 (TOMMO)
-=0.000121/28 (GnomAD_exomes)
-=0.000143/17 (ExAC)
HGVS:: NC_000010.11:g.110298625AG[1], NC_000010.10:g.112058383AG[1], NG_008284.1:g.11322CT[1]

Select item 14915617762.

rs1491561776 has merged into rs765756908 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAACAACAA>-,CAA,CAACAA,CAACAACAACAA,CAACAACAACAACAA,CAACAACAACAACAACAA [Show Flanks]
Chromosome:: 10:110306010 (GRCh38)
10:112065768 (GRCh37)
Canonical SPDI:: NC_000010.11:110305997:CAACAACAACAACAACAACAA:CAACAACAACAA,NC_000010.11:110305997:CAACAACAACAACAACAACAA:CAACAACAACAACAA,NC_000010.11:110305997:CAACAACAACAACAACAACAA:CAACAACAACAACAACAA,NC_000010.11:110305997:CAACAACAACAACAACAACAA:CAACAACAACAACAACAACAACAA,NC_000010.11:110305997:CAACAACAACAACAACAACAA:CAACAACAACAACAACAACAACAACAA,NC_000010.11:110305997:CAACAACAACAACAACAACAA:CAACAACAACAACAACAACAACAACAACAA
Gene:: SMNDC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAACAACAACAACAACAACAACAA=0./0 (ALFA)
-=0.00054/9 (TOMMO)
CAA=0.00062/4 (1000Genomes)
HGVS:: NC_000010.11:g.110305998CAA[4], NC_000010.11:g.110305998CAA[5], NC_000010.11:g.110305998CAA[6], NC_000010.11:g.110305998CAA[8], NC_000010.11:g.110305998CAA[9], NC_000010.11:g.110305998CAA[10], NC_000010.10:g.112065756CAA[4], NC_000010.10:g.112065756CAA[5], NC_000010.10:g.112065756CAA[6], NC_000010.10:g.112065756CAA[8], NC_000010.10:g.112065756CAA[9], NC_000010.10:g.112065756CAA[10], NG_008284.1:g.3932TTG[4], NG_008284.1:g.3932TTG[5], NG_008284.1:g.3932TTG[6], NG_008284.1:g.3932TTG[8], NG_008284.1:g.3932TTG[9], NG_008284.1:g.3932TTG[10]

Select item 14915170013.

rs1491517001 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 10:110305997 (GRCh38)
10:112065755 (GRCh37)
Canonical SPDI:: NC_000010.11:110305996:CC:
Gene:: SMNDC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000058/8 (GnomAD)
HGVS:: NC_000010.11:g.110305997_110305998del, NC_000010.10:g.112065755_112065756del, NG_008284.1:g.3952_3953del

Select item 14915116994.

rs1491511699 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 10:110297872 (GRCh38)
10:112057630 (GRCh37)
Canonical SPDI:: NC_000010.11:110297869:AAAA:AA
Gene:: SMNDC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.110297872_110297873del, NC_000010.10:g.112057630_112057631del, NG_008284.1:g.12079_12080del

Select item 14912788755.

rs1491278875 [Homo sapiens]

Variant type:: INS
Alleles:: ->CG [Show Flanks]
Chromosome:: 10:110297870 (GRCh38)
10:112057629 (GRCh37)
Canonical SPDI:: NC_000010.11:110297870::CG
Gene:: SMNDC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CG=0./0 (ALFA)
CG=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.110297870_110297871insCG, NC_000010.10:g.112057628_112057629insCG, NG_008284.1:g.12079_12080insCG

Select item 14907408176.

rs1490740817 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:110296052 (GRCh38)
10:112055811 (GRCh37)
Canonical SPDI:: NC_000010.11:110296052:A:AA
Gene:: SMNDC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.110296053dup, NC_000010.10:g.112055811dup, NG_008284.1:g.13897dup

Select item 14907251037.

rs1490725103 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:110294973 (GRCh38)
10:112054731 (GRCh37)
Canonical SPDI:: NC_000010.11:110294972:A:C
Gene:: SMNDC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.110294973A>C, NC_000010.10:g.112054731A>C, NG_008284.1:g.14977T>G

Select item 14906331178.

rs1490633117 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:110296392 (GRCh38)
10:112056150 (GRCh37)
Canonical SPDI:: NC_000010.11:110296391:T:A,NC_000010.11:110296391:T:C
Gene:: SMNDC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.110296392T>A, NC_000010.11:g.110296392T>C, NC_000010.10:g.112056150T>A, NC_000010.10:g.112056150T>C, NG_008284.1:g.13558A>T, NG_008284.1:g.13558A>G

Select item 14906087629.

rs1490608762 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:110301704 (GRCh38)
10:112061462 (GRCh37)
Canonical SPDI:: NC_000010.11:110301703:T:C
Gene:: SMNDC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.110301704T>C, NC_000010.10:g.112061462T>C, NG_008284.1:g.8246A>G

Select item 149056311210.

rs1490563112 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 10:110295553 (GRCh38)
10:112055311 (GRCh37)
Canonical SPDI:: NC_000010.11:110295552:G:
Gene:: SMNDC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.110295553del, NC_000010.10:g.112055311del, NG_008284.1:g.14397del

Select item 149029266911.

rs1490292669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:110305251 (GRCh38)
10:112065009 (GRCh37)
Canonical SPDI:: NC_000010.11:110305250:G:A
Gene:: SMNDC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.110305251G>A, NC_000010.10:g.112065009G>A, NG_008284.1:g.4699C>T

Select item 148983240912.

rs1489832409 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:110297974 (GRCh38)
10:112057732 (GRCh37)
Canonical SPDI:: NC_000010.11:110297973:C:T
Gene:: SMNDC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000043/6 (GnomAD)
T=0.000672/11 (TOMMO)
T=0.002738/8 (KOREAN)
T=0.003275/6 (Korea1K)
HGVS:: NC_000010.11:g.110297974C>T, NC_000010.10:g.112057732C>T, NG_008284.1:g.11976G>A

Select item 148970155613.

rs1489701556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:110301380 (GRCh38)
10:112061138 (GRCh37)
Canonical SPDI:: NC_000010.11:110301379:G:A
Gene:: SMNDC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.110301380G>A, NC_000010.10:g.112061138G>A, NG_008284.1:g.8570C>T

Select item 148956941414.

rs1489569414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:110298474 (GRCh38)
10:112058232 (GRCh37)
Canonical SPDI:: NC_000010.11:110298473:A:G
Gene:: SMNDC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
G=0.000342/1 (KOREAN)
HGVS:: NC_000010.11:g.110298474A>G, NC_000010.10:g.112058232A>G, NG_008284.1:g.11476T>C

Select item 148940625215.

rs1489406252 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:110296911 (GRCh38)
10:112056670 (GRCh37)
Canonical SPDI:: NC_000010.11:110296911:T:TT
Gene:: SMNDC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.00003/8 (TOPMED)
HGVS:: NC_000010.11:g.110296912dup, NC_000010.10:g.112056670dup, NG_008284.1:g.13038dup

Select item 148915821816.

rs1489158218 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:110305725 (GRCh38)
10:112065483 (GRCh37)
Canonical SPDI:: NC_000010.11:110305724:T:C
Gene:: SMNDC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.110305725T>C, NC_000010.10:g.112065483T>C, NG_008284.1:g.4225A>G

Select item 148883076717.

rs1488830767 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:110306002 (GRCh38)
10:112065760 (GRCh37)
Canonical SPDI:: NC_000010.11:110306001:A:C,NC_000010.11:110306001:A:G
Gene:: SMNDC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.110306002A>C, NC_000010.11:g.110306002A>G, NC_000010.10:g.112065760A>C, NC_000010.10:g.112065760A>G, NG_008284.1:g.3948T>G, NG_008284.1:g.3948T>C

Select item 148863947418.

rs1488639474 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:110305245 (GRCh38)
10:112065003 (GRCh37)
Canonical SPDI:: NC_000010.11:110305244:A:C,NC_000010.11:110305244:A:G
Gene:: SMNDC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
HGVS:: NC_000010.11:g.110305245A>C, NC_000010.11:g.110305245A>G, NC_000010.10:g.112065003A>C, NC_000010.10:g.112065003A>G, NG_008284.1:g.4705T>G, NG_008284.1:g.4705T>C

Select item 148833180519.

rs1488331805 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:110306120 (GRCh38)
10:112065878 (GRCh37)
Canonical SPDI:: NC_000010.11:110306119:T:C
Gene:: SMNDC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000015/2 (GnomAD)
HGVS:: NC_000010.11:g.110306120T>C, NC_000010.10:g.112065878T>C, NG_008284.1:g.3830A>G

Select item 148793291120.

rs1487932911 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:110298954 (GRCh38)
10:112058712 (GRCh37)
Canonical SPDI:: NC_000010.11:110298953:T:C
Gene:: SMNDC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.110298954T>C, NC_000010.10:g.112058712T>C, NG_008284.1:g.10996A>G

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity