SNP Links for Gene (Select 100093698) - SNP

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Select item 14909909451.

rs1490990945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:13310604 (GRCh38)
X:13328723 (GRCh37)
Canonical SPDI:: NC_000023.11:13310603:G:A
Gene:: GS1-600G8.3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.13310604G>A, NC_000023.10:g.13328723G>A

Select item 14909652442.

rs1490965244 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:13311989 (GRCh38)
X:13330108 (GRCh37)
Canonical SPDI:: NC_000023.11:13311988:A:G
Gene:: GS1-600G8.3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.13311989A>G, NC_000023.10:g.13330108A>G

Select item 14908519573.

rs1490851957 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: X:13313233 (GRCh38)
X:13331352 (GRCh37)
Canonical SPDI:: NC_000023.11:13313232:CC:C
Gene:: GS1-600G8.3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.13313234del, NC_000023.10:g.13331353del

Select item 14901722894.

rs1490172289 has merged into rs4024511 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: X:13309974 (GRCh38)
X:13328093 (GRCh37)
Canonical SPDI:: NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: GS1-600G8.3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTG=0./0 (ALFA)
-=0.375/15 (GENOME_DK)
-=0.49589/1872 (1000Genomes)
HGVS:: NC_000023.11:g.13309958TG[8], NC_000023.11:g.13309958TG[9], NC_000023.11:g.13309958TG[10], NC_000023.11:g.13309958TG[11], NC_000023.11:g.13309958TG[12], NC_000023.11:g.13309958TG[13], NC_000023.11:g.13309958TG[15], NC_000023.11:g.13309958TG[16], NC_000023.11:g.13309958TG[17], NC_000023.11:g.13309958TG[18], NC_000023.10:g.13328077TG[8], NC_000023.10:g.13328077TG[9], NC_000023.10:g.13328077TG[10], NC_000023.10:g.13328077TG[11], NC_000023.10:g.13328077TG[12], NC_000023.10:g.13328077TG[13], NC_000023.10:g.13328077TG[15], NC_000023.10:g.13328077TG[16], NC_000023.10:g.13328077TG[17], NC_000023.10:g.13328077TG[18]

Select item 14901456465.

rs1490145646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:13311454 (GRCh38)
X:13329573 (GRCh37)
Canonical SPDI:: NC_000023.11:13311453:G:A
Gene:: GS1-600G8.3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000049/13 (TOPMED)
HGVS:: NC_000023.11:g.13311454G>A, NC_000023.10:g.13329573G>A

Select item 14900382576.

rs1490038257 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:13313626 (GRCh38)
X:13331745 (GRCh37)
Canonical SPDI:: NC_000023.11:13313625:C:T
Gene:: GS1-600G8.3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.13313626C>T, NC_000023.10:g.13331745C>T

Select item 14900125597.

rs1490012559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:13309256 (GRCh38)
X:13327375 (GRCh37)
Canonical SPDI:: NC_000023.11:13309255:A:G,NC_000023.11:13309255:A:T
Gene:: GS1-600G8.3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.13309256A>G, NC_000023.11:g.13309256A>T, NC_000023.10:g.13327375A>G, NC_000023.10:g.13327375A>T

Select item 14897002578.

rs1489700257 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:13320035 (GRCh38)
X:13338154 (GRCh37)
Canonical SPDI:: NC_000023.11:13320034:T:G
Gene:: ATXN3L (Varview), GS1-600G8.3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.13320035T>G, NC_000023.10:g.13338154T>G, NG_021356.1:g.5365A>C, NM_001135995.2:c.-101A>C, NM_001135995.1:c.-101A>C, NR_003585.1:n.373A>C, NM_001387036.1:c.-101A>C

Select item 14890115489.

rs1489011548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:13316310 (GRCh38)
X:13334429 (GRCh37)
Canonical SPDI:: NC_000023.11:13316309:C:T
Gene:: GS1-600G8.3 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.13316310C>T, NC_000023.10:g.13334429C>T

Select item 148887983210.

rs1488879832 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:13313223 (GRCh38)
X:13331342 (GRCh37)
Canonical SPDI:: NC_000023.11:13313222:A:G
Gene:: GS1-600G8.3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.13313223A>G, NC_000023.10:g.13331342A>G

Select item 148886083311.

rs1488860833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:13317993 (GRCh38)
X:13336112 (GRCh37)
Canonical SPDI:: NC_000023.11:13317992:C:T
Gene:: GS1-600G8.3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.13317993C>T, NC_000023.10:g.13336112C>T, NG_021356.1:g.7407G>A

Select item 148785331112.

rs1487853311 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:13312633 (GRCh38)
X:13330752 (GRCh37)
Canonical SPDI:: NC_000023.11:13312632:A:T
Gene:: GS1-600G8.3 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.13312633A>T, NC_000023.10:g.13330752A>T, NR_046087.1:n.725A>T

Select item 148666682113.

rs1486666821 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:13316453 (GRCh38)
X:13334572 (GRCh37)
Canonical SPDI:: NC_000023.11:13316452:G:A
Gene:: GS1-600G8.3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.13316453G>A, NC_000023.10:g.13334572G>A

Select item 148588867114.

rs1485888671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:13319910 (GRCh38)
X:13338029 (GRCh37)
Canonical SPDI:: NC_000023.11:13319909:G:A
Gene:: ATXN3L (Varview), GS1-600G8.3 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.13319910G>A, NC_000023.10:g.13338029G>A, NG_021356.1:g.5490C>T, NM_001135995.2:c.25C>T, NM_001135995.1:c.25C>T, NR_046087.1:n.2226G>A, NR_003585.1:n.498C>T, NM_001387036.1:c.25C>T, NP_001129467.1:p.Gln9Ter, NP_001373965.1:p.Gln9Ter

Select item 148582371915.

rs1485823719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:13317714 (GRCh38)
X:13335833 (GRCh37)
Canonical SPDI:: NC_000023.11:13317713:G:A
Gene:: GS1-600G8.3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.13317714G>A, NC_000023.10:g.13335833G>A, NG_021356.1:g.7686C>T

Select item 148575390816.

rs1485753908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:13316607 (GRCh38)
X:13334726 (GRCh37)
Canonical SPDI:: NC_000023.11:13316606:C:T
Gene:: GS1-600G8.3 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.13316607C>T, NC_000023.10:g.13334726C>T, NR_046087.1:n.1304C>T

Select item 148549082017.

rs1485490820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:13317059 (GRCh38)
X:13335178 (GRCh37)
Canonical SPDI:: NC_000023.11:13317058:A:G
Gene:: GS1-600G8.3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/2 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.13317059A>G, NC_000023.10:g.13335178A>G, NG_021356.1:g.8341T>C

Select item 148486764218.

rs1484867642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:13311321 (GRCh38)
X:13329440 (GRCh37)
Canonical SPDI:: NC_000023.11:13311320:C:A
Gene:: GS1-600G8.3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.13311321C>A, NC_000023.10:g.13329440C>A

Select item 148392756619.

rs1483927566 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:13319024 (GRCh38)
X:13337143 (GRCh37)
Canonical SPDI:: NC_000023.11:13319023:G:A
Gene:: ATXN3L (Varview), GS1-600G8.3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000087/2 (ALFA)
A=0.000017/3 (GnomAD_exomes)
A=0.000019/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.13319024G>A, NC_000023.10:g.13337143G>A, NG_021356.1:g.6376C>T, NM_001135995.2:c.911C>T, NM_001135995.1:c.911C>T, NR_046087.1:n.1465G>A, NR_003585.1:n.1384C>T, NM_001387036.1:c.647C>T, NP_001129467.1:p.Pro304Leu, NP_001373965.1:p.Pro216Leu

Select item 148331053720.

rs1483310537 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:13310112 (GRCh38)
X:13328231 (GRCh37)
Canonical SPDI:: NC_000023.11:13310111:A:G
Gene:: GS1-600G8.3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.13310112A>G, NC_000023.10:g.13328231A>G

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