SNP Links for Gene (Select 63947) - SNP

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Items: 1 to 20 of 2473

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Select item 14909406151.

rs1490940615 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:72939714 (GRCh38)
X:72159554 (GRCh37)
Canonical SPDI:: NC_000023.11:72939713:C:A,NC_000023.11:72939713:C:T
Gene:: DMRTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0./0 (SGDP_PRJ)
T=0.00032/4 (TOMMO)
T=0.00082/2 (KOREAN)
HGVS:: NC_000023.11:g.72939714C>A, NC_000023.11:g.72939714C>T, NW_004070882.1:g.628731C>A, NW_004070882.1:g.628731C>T, NC_000023.10:g.72159554C>A, NC_000023.10:g.72159554C>T

Select item 14908370582.

rs1490837058 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: X:72880657 (GRCh38)
X:72100480 (GRCh37)
Canonical SPDI:: NC_000023.11:72880655:TTCT:T
Gene:: DMRTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.01534/182 (ALFA)
-=0.00053/7 (GnomAD)
-=0.00677/85 (TOMMO)
HGVS:: NC_000023.11:g.72880657_72880659del, NW_004070882.1:g.569674_569676del, NC_000023.10:g.72100480_72100482del

Select item 14906993723.

rs1490699372 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:72886668 (GRCh38)
X:72106493 (GRCh37)
Canonical SPDI:: NC_000023.11:72886667:C:T
Gene:: DMRTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.72886668C>T, NW_004070882.1:g.575685C>T, NC_000023.10:g.72106493C>T

Select item 14905645084.

rs1490564508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:72926119 (GRCh38)
X:72145957 (GRCh37)
Canonical SPDI:: NC_000023.11:72926118:T:G
Gene:: DMRTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00025/3 (ALFA)
HGVS:: NC_000023.11:g.72926119T>G, NW_004070882.1:g.615136T>G, NC_000023.10:g.72145957T>G

Select item 14904520535.

rs1490452053 has merged into rs1229164919 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGGAGGAGGAGGAGGAGGAG>-,GAGGAGGAG,GAGGAGGAGGAG,GAGGAGGAGGAGGAG,GAGGAGGAGGAGGAGGAG,GAGGAGGAGGAGGAGGAGGAGGAG,GAGGAGGAGGAGGAGGAGGAGGAGGAG,GAGGAGGAGGAGGAGGAGGAGGAGGAGGAG [Show Flanks]
Chromosome:: X:72943784 (GRCh38)
X:72163623 (GRCh37)
Canonical SPDI:: NC_000023.11:72943772:AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG:AGGAGGAGGAG,NC_000023.11:72943772:AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG:AGGAGGAGGAGGAGGAGGAG,NC_000023.11:72943772:AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG:AGGAGGAGGAGGAGGAGGAGGAG,NC_000023.11:72943772:AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG:AGGAGGAGGAGGAGGAGGAGGAGGAG,NC_000023.11:72943772:AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG:AGGAGGAGGAGGAGGAGGAGGAGGAGGAG,NC_000023.11:72943772:AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG:AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG,NC_000023.11:72943772:AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG:AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG,NC_000023.11:72943772:AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG:AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG
Gene:: DMRTC1 (Varview), FAM226A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGGAGGAGGAGGAGGAGGAG=0./0 (ALFA)
HGVS:: NC_000023.11:g.72943775GAG[3], NC_000023.11:g.72943775GAG[6], NC_000023.11:g.72943775GAG[7], NC_000023.11:g.72943775GAG[8], NC_000023.11:g.72943775GAG[9], NC_000023.11:g.72943775GAG[11], NC_000023.11:g.72943775GAG[12], NC_000023.11:g.72943775GAG[13], NW_004070882.1:g.632792GAG[3], NW_004070882.1:g.632792GAG[6], NW_004070882.1:g.632792GAG[7], NW_004070882.1:g.632792GAG[8], NW_004070882.1:g.632792GAG[9], NW_004070882.1:g.632792GAG[11], NW_004070882.1:g.632792GAG[12], NW_004070882.1:g.632792GAG[13], NC_000023.10:g.72163614GAG[5], NC_000023.10:g.72163614GAG[8], NC_000023.10:g.72163614GAG[9], NC_000023.10:g.72163614GAG[10], NC_000023.10:g.72163614GAG[11], NC_000023.10:g.72163614GAG[13], NC_000023.10:g.72163614GAG[14], NC_000023.10:g.72163614GAG[15], NM_033053.3:c.-322CCT[3], NM_033053.3:c.-322CCT[6], NM_033053.3:c.-322CCT[7], NM_033053.3:c.-322CCT[8], NM_033053.3:c.-322CCT[9], NM_033053.3:c.-322CCT[11], NM_033053.3:c.-322CCT[12], NM_033053.3:c.-322CCT[13], NR_170342.1:n.36CCT[3], NR_170342.1:n.36CCT[6], NR_170342.1:n.36CCT[7], NR_170342.1:n.36CCT[8], NR_170342.1:n.36CCT[9], NR_170342.1:n.36CCT[11], NR_170342.1:n.36CCT[12], NR_170342.1:n.36CCT[13], NM_001386923.1:c.-337CCT[3], NM_001386923.1:c.-337CCT[6], NM_001386923.1:c.-337CCT[7], NM_001386923.1:c.-337CCT[8], NM_001386923.1:c.-337CCT[9], NM_001386923.1:c.-337CCT[11], NM_001386923.1:c.-337CCT[12], NM_001386923.1:c.-337CCT[13], NM_001386924.1:c.-245CCT[3], NM_001386924.1:c.-245CCT[6], NM_001386924.1:c.-245CCT[7], NM_001386924.1:c.-245CCT[8], NM_001386924.1:c.-245CCT[9], NM_001386924.1:c.-245CCT[11], NM_001386924.1:c.-245CCT[12], NM_001386924.1:c.-245CCT[13]

Select item 14903283746.

rs1490328374 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:72887154 (GRCh38)
X:72106978 (GRCh37)
Canonical SPDI:: NC_000023.11:72887153:A:G
Gene:: DMRTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00017/2 (ALFA)
G=0.00006/2 (GnomAD)
HGVS:: NC_000023.11:g.72887154A>G, NW_004070882.1:g.576171A>G, NC_000023.10:g.72106978A>G

Select item 14901900837.

rs1490190083 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:72905859 (GRCh38)
X:72125698 (GRCh37)
Canonical SPDI:: NC_000023.11:72905858:G:A,NC_000023.11:72905858:G:T
Gene:: DMRTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.72905859G>A, NC_000023.11:g.72905859G>T, NW_004070882.1:g.594876G>A, NW_004070882.1:g.594876G>T, NC_000023.10:g.72125698G>A, NC_000023.10:g.72125698G>T

Select item 14896278678.

rs1489627867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:72877097 (GRCh38)
X:72096931 (GRCh37)
Canonical SPDI:: NC_000023.11:72877096:G:A
Gene:: DMRTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/2 (GnomAD)
HGVS:: NC_000023.11:g.72877097G>A, NW_004070882.1:g.566114G>A, NC_000023.10:g.72096931G>A

Select item 14895996239.

rs1489599623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:72911368 (GRCh38)
X:72131206 (GRCh37)
Canonical SPDI:: NC_000023.11:72911367:G:A
Gene:: DMRTC1 (Varview), FAM236C (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/2 (GnomAD)
A=0.00036/5 (TOMMO)
HGVS:: NC_000023.11:g.72911368G>A, NW_004070882.1:g.600385G>A, NC_000023.10:g.72131206G>A

Select item 148934804510.

rs1489348045 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:72879620 (GRCh38)
X:72099455 (GRCh37)
Canonical SPDI:: NC_000023.11:72879619:A:G
Gene:: DMRTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000011/1 (GnomAD)
HGVS:: NC_000023.11:g.72879620A>G, NW_004070882.1:g.568637A>G, NC_000023.10:g.72099455A>G

Select item 148914944211.

rs1489149442 has merged into rs34225140 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA [Show Flanks]
Chromosome:: X:72905191 (GRCh38)
X:72125030 (GRCh37)
Canonical SPDI:: NC_000023.11:72905179:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:72905179:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:72905179:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:72905179:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: DMRTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.0006/5 (GnomAD)
-=0.4599/1736 (1000Genomes)
HGVS:: NC_000023.11:g.72905191_72905193del, NC_000023.11:g.72905192_72905193del, NC_000023.11:g.72905193del, NC_000023.11:g.72905193dup, NW_004070882.1:g.594208_594210del, NW_004070882.1:g.594209_594210del, NW_004070882.1:g.594210del, NW_004070882.1:g.594210dup, NC_000023.10:g.72125030_72125032del, NC_000023.10:g.72125031_72125032del, NC_000023.10:g.72125032del, NC_000023.10:g.72125032dup

Select item 148889391612.

rs1488893916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:72905775 (GRCh38)
X:72125614 (GRCh37)
Canonical SPDI:: NC_000023.11:72905774:C:T
Gene:: DMRTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00005/4 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.72905775C>T, NW_004070882.1:g.594792C>T, NC_000023.10:g.72125614C>T

Select item 148862719813.

rs1488627198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:72911924 (GRCh38)
X:72131762 (GRCh37)
Canonical SPDI:: NC_000023.11:72911923:C:T
Gene:: DMRTC1 (Varview), FAM236C (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
T=0.00005/3 (GnomAD)
HGVS:: NC_000023.11:g.72911924C>T, NW_004070882.1:g.600941C>T, NC_000023.10:g.72131762C>T

Select item 148846611114.

rs1488466111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:72881861 (GRCh38)
X:72101684 (GRCh37)
Canonical SPDI:: NC_000023.11:72881860:C:A
Gene:: DMRTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00017/2 (ALFA)
HGVS:: NC_000023.11:g.72881861C>A, NW_004070882.1:g.570878C>A, NC_000023.10:g.72101684C>A

Select item 148826300115.

rs1488263001 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:72911940 (GRCh38)
X:72131778 (GRCh37)
Canonical SPDI:: NC_000023.11:72911939:G:T
Gene:: DMRTC1 (Varview), FAM236C (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00003/2 (GnomAD)
HGVS:: NC_000023.11:g.72911940G>T, NW_004070882.1:g.600957G>T, NC_000023.10:g.72131778G>T

Select item 148807103216.

rs1488071032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:72913436 (GRCh38)
X:72133273 (GRCh37)
Canonical SPDI:: NC_000023.11:72913435:G:A
Gene:: DMRTC1 (Varview), FAM236C (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000422/5 (ALFA)
A=0.000149/14 (GnomAD)
A=0.000208/1 (1000Genomes)
A=0.000208/55 (TOPMED)
HGVS:: NC_000023.11:g.72913436G>A, NW_004070882.1:g.602453G>A, NC_000023.10:g.72133273G>A

Select item 148791531617.

rs1487915316 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: X:72939705 (GRCh38)
X:72159546 (GRCh37)
Canonical SPDI:: NC_000023.11:72939705:G:GG
Gene:: DMRTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.01054/125 (ALFA)
G=0.01519/73 (1000Genomes)
G=0.01554/1263 (GnomAD)
HGVS:: NC_000023.11:g.72939706dup, NW_004070882.1:g.628723dup, NC_000023.10:g.72159546dup

Select item 148791359018.

rs1487913590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:72906340 (GRCh38)
X:72126179 (GRCh37)
Canonical SPDI:: NC_000023.11:72906339:C:T
Gene:: DMRTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.72906340C>T, NW_004070882.1:g.595357C>T, NC_000023.10:g.72126179C>T

Select item 148786492919.

rs1487864929 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: X:72924580 (GRCh38)
X:72144418 (GRCh37)
Canonical SPDI:: NC_000023.11:72924571:AAAAAAAAAA:AAAAAAAA,NC_000023.11:72924571:AAAAAAAAAA:AAAAAAAAA,NC_000023.11:72924571:AAAAAAAAAA:AAAAAAAAAAA
Gene:: DMRTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0.00006/1 (ALFA)
A=0.00036/5 (TOMMO)
HGVS:: NC_000023.11:g.72924580_72924581del, NC_000023.11:g.72924581del, NC_000023.11:g.72924581dup, NW_004070882.1:g.613597_613598del, NW_004070882.1:g.613598del, NW_004070882.1:g.613598dup, NC_000023.10:g.72144418_72144419del, NC_000023.10:g.72144419del, NC_000023.10:g.72144419dup

Select item 148777666920.

rs1487776669 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:72912721 (GRCh38)
X:72132559 (GRCh37)
Canonical SPDI:: NC_000023.11:72912720:T:G
Gene:: DMRTC1 (Varview), FAM236C (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.00025/3 (ALFA)
G=0.00021/12 (GnomAD)
HGVS:: NC_000023.11:g.72912721T>G, NW_004070882.1:g.601738T>G, NC_000023.10:g.72132559T>G, NM_001351111.1:c.7T>G, NM_001351112.1:c.7T>G, NP_001338040.1:p.Phe3Val, NP_001338041.1:p.Phe3Val

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