SNP Links for Gene (Select 84255) - SNP

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Select item 14915845081.

rs1491584508 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAAATATAAATATATTATATATATTATATAT,TAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATAGTATATATAATATAAATATATTATATATATTATATAT,TAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATACAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,TAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATAATATATATAATATAAATATATTATATATATTATATAT,TAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATAATATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,TAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATAATATATAT,TAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATGTTATATATAATATAAATATATTATATATATTATATAT,TAAATATAAATATATTATATATATTATATATAATATAAATATTATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,TAAATATAAATATATTATATATATTATATATAATATAAATATTATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,TAAATATAAATATATTATATATATTATATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,TAAATATAATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,TAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,TAATATAAATATATTATATATATTATATAT,TAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,TAT,TATATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,TATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,TTATATAT,TTATATATAAATATAAATATATTATATATATTATATATAAATATAAATATATTATATATATTATATATAAATATAAATATATTATATATATTATATAT,TTATATATAAATATAAATATATTATATATATTATATATAAATATAAATATATTATATATATTATATATAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,TTATATATAAATATAAATATATTATATATATTATATATAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,TTATATATAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,TTATATATAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,TTATATATAAATATAAATATATTATATATATTATATATATAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,TTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT [Show Flanks]
Chromosome:: 7:140387809 (GRCh38)
7:140087610 (GRCh37)
Canonical SPDI:: NC_000007.14:140387809::T,NC_000007.14:140387809::TAAATATAAATATATTATATATATTATATAT,NC_000007.14:140387809::TAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATAGTATATATAATATAAATATATTATATATATTATATAT,NC_000007.14:140387809::TAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATACAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,NC_000007.14:140387809::TAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATAATATATATAATATAAATATATTATATATATTATATAT,NC_000007.14:140387809::TAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATAATATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,NC_000007.14:140387809::TAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATAATATATAT,NC_000007.14:140387809::TAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATGTTATATATAATATAAATATATTATATATATTATATAT,NC_000007.14:140387809::TAAATATAAATATATTATATATATTATATATAATATAAATATTATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,NC_000007.14:140387809::TAAATATAAATATATTATATATATTATATATAATATAAATATTATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,NC_000007.14:140387809::TAAATATAAATATATTATATATATTATATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,NC_000007.14:140387809::TAAATATAATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,NC_000007.14:140387809::TAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,NC_000007.14:140387809::TAATATAAATATATTATATATATTATATAT,NC_000007.14:140387809::TAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,NC_000007.14:140387809::TAT,NC_000007.14:140387809::TATATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,NC_000007.14:140387809::TATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,NC_000007.14:140387809::TTATATAT,NC_000007.14:140387809::TTATATATAAATATAAATATATTATATATATTATATATAAATATAAATATATTATATATATTATATATAAATATAAATATATTATATATATTATATAT,NC_000007.14:140387809::TTATATATAAATATAAATATATTATATATATTATATATAAATATAAATATATTATATATATTATATATAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,NC_000007.14:140387809::TTATATATAAATATAAATATATTATATATATTATATATAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,NC_000007.14:140387809::TTATATATAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,NC_000007.14:140387809::TTATATATAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,NC_000007.14:140387809::TTATATATAAATATAAATATATTATATATATTATATATATAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT,NC_000007.14:140387809::TTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT
Gene:: SLC37A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
HGVS:: NC_000007.14:g.140387809_140387810insT, NC_000007.14:g.140387809_140387810insTAAATATAAATATATTATATATATTATATAT, NC_000007.14:g.140387809_140387810insTAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATAGTATATATAATATAAATATATTATATATATTATATAT, NC_000007.14:g.140387809_140387810insTAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATACAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.14:g.140387809_140387810insTAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATAATATATATAATATAAATATATTATATATATTATATAT, NC_000007.14:g.140387809_140387810insTAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATAATATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.14:g.140387809_140387810insTAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATAATATATAT, NC_000007.14:g.140387809_140387810insTAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATGTTATATATAATATAAATATATTATATATATTATATAT, NC_000007.14:g.140387809_140387810insTAAATATAAATATATTATATATATTATATATAATATAAATATTATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.14:g.140387809_140387810insTAAATATAAATATATTATATATATTATATATAATATAAATATTATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.14:g.140387809_140387810insTAAATATAAATATATTATATATATTATATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.14:g.140387809_140387810insTAAATATAATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.14:g.140387809_140387810insTAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.14:g.140387809_140387810insTAATATAAATATATTATATATATTATATAT, NC_000007.14:g.140387809_140387810insTAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.14:g.140387809_140387810insTAT, NC_000007.14:g.140387809_140387810insTATATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.14:g.140387809_140387810insTATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.14:g.140387809_140387810insTTATATAT, NC_000007.14:g.140387809_140387810insTTATATATAAATATAAATATATTATATATATTATATATAAATATAAATATATTATATATATTATATATAAATATAAATATATTATATATATTATATAT, NC_000007.14:g.140387809_140387810insTTATATATAAATATAAATATATTATATATATTATATATAAATATAAATATATTATATATATTATATATAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.14:g.140387809_140387810insTTATATATAAATATAAATATATTATATATATTATATATAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.14:g.140387809_140387810insTTATATATAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.14:g.140387809_140387810insTTATATATAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.14:g.140387809_140387810insTTATATATAAATATAAATATATTATATATATTATATATATAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.14:g.140387809_140387810insTTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insT, NC_000007.13:g.140087609_140087610insTAAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insTAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATAGTATATATAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insTAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATACAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insTAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATAATATATATAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insTAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATAATATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insTAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATAATATATAT, NC_000007.13:g.140087609_140087610insTAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATGTTATATATAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insTAAATATAAATATATTATATATATTATATATAATATAAATATTATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insTAAATATAAATATATTATATATATTATATATAATATAAATATTATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insTAAATATAAATATATTATATATATTATATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insTAAATATAATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insTAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insTAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insTAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insTAT, NC_000007.13:g.140087609_140087610insTATATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insTATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insTTATATAT, NC_000007.13:g.140087609_140087610insTTATATATAAATATAAATATATTATATATATTATATATAAATATAAATATATTATATATATTATATATAAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insTTATATATAAATATAAATATATTATATATATTATATATAAATATAAATATATTATATATATTATATATAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insTTATATATAAATATAAATATATTATATATATTATATATAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insTTATATATAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insTTATATATAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insTTATATATAAATATAAATATATTATATATATTATATATATAAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT, NC_000007.13:g.140087609_140087610insTTATATATAATATAAATATATTATATATATTATATATAATATAAATATATTATATATATTATATAT

Select item 14915609082.

rs1491560908 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT,CTTCT [Show Flanks]
Chromosome:: 7:140380898 (GRCh38)
7:140080699 (GRCh37)
Canonical SPDI:: NC_000007.14:140380898:T:TCT,NC_000007.14:140380898:T:TCTTCT
Gene:: SLC37A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTTCT=0./0 (ALFA)
HGVS:: NC_000007.14:g.140380899_140380900insCT, NC_000007.14:g.140380899_140380900insCTTCT, NC_000007.13:g.140080699_140080700insCT, NC_000007.13:g.140080699_140080700insCTTCT

Select item 14915273113.

rs1491527311 has merged into rs11331602 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:140337263 (GRCh38)
7:140037063 (GRCh37)
Canonical SPDI:: NC_000007.14:140337253:TTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:140337253:TTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:140337253:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:140337253:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:140337253:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:140337253:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:140337253:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC37A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.255162/4276 (TOMMO)
T=0.282205/517 (Korea1K)
-=0.46672/58999 (GnomAD_exomes)
HGVS:: NC_000007.14:g.140337263_140337265del, NC_000007.14:g.140337264_140337265del, NC_000007.14:g.140337265del, NC_000007.14:g.140337265dup, NC_000007.14:g.140337264_140337265dup, NC_000007.14:g.140337259_140337265dup, NC_000007.14:g.140337265_140337266insTTTTTTTTTTTTTT, NC_000007.13:g.140037063_140037065del, NC_000007.13:g.140037064_140037065del, NC_000007.13:g.140037065del, NC_000007.13:g.140037065dup, NC_000007.13:g.140037064_140037065dup, NC_000007.13:g.140037059_140037065dup, NC_000007.13:g.140037065_140037066insTTTTTTTTTTTTTT

Select item 14915219924.

rs1491521992 has merged into rs1377694237 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 7:140387692 (GRCh38)
7:140087492 (GRCh37)
Canonical SPDI:: NC_000007.14:140387686:TATATATAT:TATAT,NC_000007.14:140387686:TATATATAT:TATATAT,NC_000007.14:140387686:TATATATAT:TATATATATAT
Gene:: SLC37A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0./0 (ALFA)
-=0.00078/13 (TOMMO)
HGVS:: NC_000007.14:g.140387688AT[2], NC_000007.14:g.140387688AT[3], NC_000007.14:g.140387688AT[5], NC_000007.13:g.140087488AT[2], NC_000007.13:g.140087488AT[3], NC_000007.13:g.140087488AT[5]

Select item 14915140525.

rs1491514052 has merged into rs147404251 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG [Show Flanks]
Chromosome:: 7:140349547 (GRCh38)
7:140049347 (GRCh37)
Canonical SPDI:: NC_000007.14:140349538:GGGGGGGGGG:GGGGGGGG,NC_000007.14:140349538:GGGGGGGGGG:GGGGGGGGG,NC_000007.14:140349538:GGGGGGGGGG:GGGGGGGGGGG,NC_000007.14:140349538:GGGGGGGGGG:GGGGGGGGGGGG
Gene:: SLC37A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGG=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
-=0.06688/248 (TWINSUK)
-=0.06928/267 (ALSPAC)
-=0.09699/425 (Estonian)
HGVS:: NC_000007.14:g.140349547_140349548del, NC_000007.14:g.140349548del, NC_000007.14:g.140349548dup, NC_000007.14:g.140349547_140349548dup, NC_000007.13:g.140049347_140049348del, NC_000007.13:g.140049348del, NC_000007.13:g.140049348dup, NC_000007.13:g.140049347_140049348dup

Select item 14914901046.

rs1491490104 has merged into rs372912763 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 7:140364265 (GRCh38)
7:140064065 (GRCh37)
Canonical SPDI:: NC_000007.14:140364258:AAAAAAAA:AAAAAA,NC_000007.14:140364258:AAAAAAAA:AAAAAAA,NC_000007.14:140364258:AAAAAAAA:AAAAAAAAA
Gene:: SLC37A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0./0 (TWINSUK)
-=0.00022/1 (Estonian)
-=0.00026/1 (ALSPAC)
-=0.02456/123 (1000Genomes)
HGVS:: NC_000007.14:g.140364265_140364266del, NC_000007.14:g.140364266del, NC_000007.14:g.140364266dup, NC_000007.13:g.140064065_140064066del, NC_000007.13:g.140064066del, NC_000007.13:g.140064066dup

Select item 14914865657.

rs1491486565 has merged into rs369765716 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 7:140387810 (GRCh38)
7:140087610 (GRCh37)
Canonical SPDI:: NC_000007.14:140387808:AAA:A,NC_000007.14:140387808:AAA:AA,NC_000007.14:140387808:AAA:AAAA,NC_000007.14:140387808:AAA:AAAAA
Gene:: SLC37A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.0014/6 (GnomAD)
A=0.0032/16 (1000Genomes)
HGVS:: NC_000007.14:g.140387810_140387811del, NC_000007.14:g.140387811del, NC_000007.14:g.140387811dup, NC_000007.14:g.140387810_140387811dup, NC_000007.13:g.140087610_140087611del, NC_000007.13:g.140087611del, NC_000007.13:g.140087611dup, NC_000007.13:g.140087610_140087611dup

Select item 14914865368.

rs1491486536 has merged into rs55939918 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 7:140396906 (GRCh38)
7:140096706 (GRCh37)
Canonical SPDI:: NC_000007.14:140396894:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:140396894:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:140396894:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:140396894:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:140396894:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:140396894:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: SLC37A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.1716/312 (Korea1K)
-=0.2854/153 (NorthernSweden)
HGVS:: NC_000007.14:g.140396906_140396907del, NC_000007.14:g.140396907del, NC_000007.14:g.140396907dup, NC_000007.14:g.140396906_140396907dup, NC_000007.14:g.140396905_140396907dup, NC_000007.14:g.140396902_140396907dup, NC_000007.13:g.140096706_140096707del, NC_000007.13:g.140096707del, NC_000007.13:g.140096707dup, NC_000007.13:g.140096706_140096707dup, NC_000007.13:g.140096705_140096707dup, NC_000007.13:g.140096702_140096707dup

Select item 14914673709.

rs1491467370 has merged into rs781223629 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG [Show Flanks]
Chromosome:: 7:140362681 (GRCh38)
7:140062481 (GRCh37)
Canonical SPDI:: NC_000007.14:140362673:GGGGGGGGGGG:GGGGGGG,NC_000007.14:140362673:GGGGGGGGGGG:GGGGGGGG,NC_000007.14:140362673:GGGGGGGGGGG:GGGGGGGGG,NC_000007.14:140362673:GGGGGGGGGGG:GGGGGGGGGG,NC_000007.14:140362673:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000007.14:140362673:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000007.14:140362673:GGGGGGGGGGG:GGGGGGGGGGGGGG
Gene:: SLC37A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
-=0.2105/8 (GENOME_DK)
HGVS:: NC_000007.14:g.140362681_140362684del, NC_000007.14:g.140362682_140362684del, NC_000007.14:g.140362683_140362684del, NC_000007.14:g.140362684del, NC_000007.14:g.140362684dup, NC_000007.14:g.140362683_140362684dup, NC_000007.14:g.140362682_140362684dup, NC_000007.13:g.140062481_140062484del, NC_000007.13:g.140062482_140062484del, NC_000007.13:g.140062483_140062484del, NC_000007.13:g.140062484del, NC_000007.13:g.140062484dup, NC_000007.13:g.140062483_140062484dup, NC_000007.13:g.140062482_140062484dup

Select item 149146169510.

rs1491461695 has merged into rs66700092 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:140348473 (GRCh38)
7:140048273 (GRCh37)
Canonical SPDI:: NC_000007.14:140348462:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:140348462:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:140348462:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:140348462:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:140348462:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:140348462:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:140348462:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:140348462:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:140348462:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:140348462:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:140348462:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140348462:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140348462:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140348462:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140348462:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140348462:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140348462:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140348462:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140348462:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140348462:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC37A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.004821/1276 (TOPMED)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000007.14:g.140348473_140348478del, NC_000007.14:g.140348474_140348478del, NC_000007.14:g.140348475_140348478del, NC_000007.14:g.140348476_140348478del, NC_000007.14:g.140348477_140348478del, NC_000007.14:g.140348478del, NC_000007.14:g.140348478dup, NC_000007.14:g.140348477_140348478dup, NC_000007.14:g.140348476_140348478dup, NC_000007.14:g.140348475_140348478dup, NC_000007.14:g.140348474_140348478dup, NC_000007.14:g.140348473_140348478dup, NC_000007.14:g.140348470_140348478dup, NC_000007.14:g.140348469_140348478dup, NC_000007.14:g.140348468_140348478dup, NC_000007.14:g.140348465_140348478dup, NC_000007.14:g.140348464_140348478dup, NC_000007.14:g.140348463_140348478dup, NC_000007.14:g.140348478_140348479insTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.140348478_140348479insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.140048273_140048278del, NC_000007.13:g.140048274_140048278del, NC_000007.13:g.140048275_140048278del, NC_000007.13:g.140048276_140048278del, NC_000007.13:g.140048277_140048278del, NC_000007.13:g.140048278del, NC_000007.13:g.140048278dup, NC_000007.13:g.140048277_140048278dup, NC_000007.13:g.140048276_140048278dup, NC_000007.13:g.140048275_140048278dup, NC_000007.13:g.140048274_140048278dup, NC_000007.13:g.140048273_140048278dup, NC_000007.13:g.140048270_140048278dup, NC_000007.13:g.140048269_140048278dup, NC_000007.13:g.140048268_140048278dup, NC_000007.13:g.140048265_140048278dup, NC_000007.13:g.140048264_140048278dup, NC_000007.13:g.140048263_140048278dup, NC_000007.13:g.140048278_140048279insTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.140048278_140048279insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149142493211.

rs1491424932 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 7:140387686 (GRCh38)
7:140087486 (GRCh37)
Canonical SPDI:: NC_000007.14:140387685:TT:
Gene:: SLC37A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.140387686_140387687del, NC_000007.13:g.140087486_140087487del

Select item 149141871012.

rs1491418710 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C [Show Flanks]
Chromosome:: 7:140349539 (GRCh38)
7:140049340 (GRCh37)
Canonical SPDI:: NC_000007.14:140349539::A,NC_000007.14:140349539::C
Gene:: SLC37A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.00014/2 (TOMMO)
HGVS:: NC_000007.14:g.140349539_140349540insA, NC_000007.14:g.140349539_140349540insC, NC_000007.13:g.140049339_140049340insA, NC_000007.13:g.140049339_140049340insC

Select item 149141062913.

rs1491410629 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 7:140387723 (GRCh38)
7:140087523 (GRCh37)
Canonical SPDI:: NC_000007.14:140387722:TT:
Gene:: SLC37A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00037/6 (ALFA)
-=0.00009/6 (GnomAD)
HGVS:: NC_000007.14:g.140387723_140387724del, NC_000007.13:g.140087523_140087524del

Select item 149140359514.

rs1491403595 has merged into rs35424074 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:140405798 (GRCh38)
7:140105598 (GRCh37)
Canonical SPDI:: NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:140405788:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RAB19 (Varview), LOC124901759 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AA=0.3285/1645 (1000Genomes)
HGVS:: NC_000007.14:g.140405798_140405807del, NC_000007.14:g.140405799_140405807del, NC_000007.14:g.140405801_140405807del, NC_000007.14:g.140405802_140405807del, NC_000007.14:g.140405803_140405807del, NC_000007.14:g.140405804_140405807del, NC_000007.14:g.140405805_140405807del, NC_000007.14:g.140405806_140405807del, NC_000007.14:g.140405807del, NC_000007.14:g.140405807dup, NC_000007.14:g.140405806_140405807dup, NC_000007.14:g.140405805_140405807dup, NC_000007.14:g.140405803_140405807dup, NC_000007.14:g.140405801_140405807dup, NC_000007.13:g.140105598_140105607del, NC_000007.13:g.140105599_140105607del, NC_000007.13:g.140105601_140105607del, NC_000007.13:g.140105602_140105607del, NC_000007.13:g.140105603_140105607del, NC_000007.13:g.140105604_140105607del, NC_000007.13:g.140105605_140105607del, NC_000007.13:g.140105606_140105607del, NC_000007.13:g.140105607del, NC_000007.13:g.140105607dup, NC_000007.13:g.140105606_140105607dup, NC_000007.13:g.140105605_140105607dup, NC_000007.13:g.140105603_140105607dup, NC_000007.13:g.140105601_140105607dup

Select item 149139985415.

rs1491399854 has merged into rs1327865260 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTCTC>-,TCTC [Show Flanks]
Chromosome:: 7:140361536 (GRCh38)
7:140061336 (GRCh37)
Canonical SPDI:: NC_000007.14:140361534:CTCTCTC:C,NC_000007.14:140361534:CTCTCTC:CTCTC
Gene:: SLC37A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTC=0./0 (ALFA)
HGVS:: NC_000007.14:g.140361536_140361541del, NC_000007.14:g.140361536TC[2], NC_000007.13:g.140061336_140061341del, NC_000007.13:g.140061336TC[2]

Select item 149138097916.

rs1491380979 has merged into rs199685905 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:140396892 (GRCh38)
7:140096692 (GRCh37)
Canonical SPDI:: NC_000007.14:140396882:TTTTTTTTTTT:TTTTTTTTT,NC_000007.14:140396882:TTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:140396882:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:140396882:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:140396882:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:140396882:TTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:140396882:TTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:140396882:TTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:140396882:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:140396882:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:140396882:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140396882:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140396882:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140396882:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140396882:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:140396882:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC37A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.00894/149 (TOMMO)
T=0.02974/54 (Korea1K)
HGVS:: NC_000007.14:g.140396892_140396893del, NC_000007.14:g.140396893del, NC_000007.14:g.140396893dup, NC_000007.14:g.140396892_140396893dup, NC_000007.14:g.140396891_140396893dup, NC_000007.14:g.140396890_140396893dup, NC_000007.14:g.140396889_140396893dup, NC_000007.14:g.140396888_140396893dup, NC_000007.14:g.140396886_140396893dup, NC_000007.14:g.140396885_140396893dup, NC_000007.14:g.140396884_140396893dup, NC_000007.14:g.140396883_140396893dup, NC_000007.14:g.140396893_140396894insTTTTTTTTTTTT, NC_000007.14:g.140396893_140396894insTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.140396893_140396894insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.140396893_140396894insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.140096692_140096693del, NC_000007.13:g.140096693del, NC_000007.13:g.140096693dup, NC_000007.13:g.140096692_140096693dup, NC_000007.13:g.140096691_140096693dup, NC_000007.13:g.140096690_140096693dup, NC_000007.13:g.140096689_140096693dup, NC_000007.13:g.140096688_140096693dup, NC_000007.13:g.140096686_140096693dup, NC_000007.13:g.140096685_140096693dup, NC_000007.13:g.140096684_140096693dup, NC_000007.13:g.140096683_140096693dup, NC_000007.13:g.140096693_140096694insTTTTTTTTTTTT, NC_000007.13:g.140096693_140096694insTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.140096693_140096694insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.140096693_140096694insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149137063517.

rs1491370635 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAT,TATTATATAT,TT [Show Flanks]
Chromosome:: 7:140387755 (GRCh38)
7:140087556 (GRCh37)
Canonical SPDI:: NC_000007.14:140387755::T,NC_000007.14:140387755::TAT,NC_000007.14:140387755::TATTATATAT,NC_000007.14:140387755::TT
Gene:: SLC37A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTATATAT=0./0 (ALFA)
T=0.00266/3 (Korea1K)
T=0.00324/52 (TOMMO)
HGVS:: NC_000007.14:g.140387755_140387756insT, NC_000007.14:g.140387755_140387756insTAT, NC_000007.14:g.140387755_140387756insTATTATATAT, NC_000007.14:g.140387755_140387756insTT, NC_000007.13:g.140087555_140087556insT, NC_000007.13:g.140087555_140087556insTAT, NC_000007.13:g.140087555_140087556insTATTATATAT, NC_000007.13:g.140087555_140087556insTT

Select item 149135911518.

rs1491359115 has merged into rs564503445 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,ATAT,ATATATAT [Show Flanks]
Chromosome:: 7:140387647 (GRCh38)
7:140087447 (GRCh37)
Canonical SPDI:: NC_000007.14:140387642:ATATATATAT:ATAT,NC_000007.14:140387642:ATATATATAT:ATATATAT,NC_000007.14:140387642:ATATATATAT:ATATATATATAT
Gene:: SLC37A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATAT=0./0 (ALFA)
-=0.02137/107 (1000Genomes)
HGVS:: NC_000007.14:g.140387643AT[2], NC_000007.14:g.140387643AT[4], NC_000007.14:g.140387643AT[6], NC_000007.13:g.140087443AT[2], NC_000007.13:g.140087443AT[4], NC_000007.13:g.140087443AT[6]

Select item 149135311919.

rs1491353119 has merged into rs57106350 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:140403677 (GRCh38)
7:140103477 (GRCh37)
Canonical SPDI:: NC_000007.14:140403676:AT:
Gene:: RAB19 (Varview), LOC124901759 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.001398/7 (1000Genomes)
HGVS:: NC_000007.14:g.140403677_140403678del, NC_000007.13:g.140103477_140103478del

Select item 149132836820.

rs1491328368 has merged into rs147404251 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG [Show Flanks]
Chromosome:: 7:140349547 (GRCh38)
7:140049347 (GRCh37)
Canonical SPDI:: NC_000007.14:140349538:GGGGGGGGGG:GGGGGGGG,NC_000007.14:140349538:GGGGGGGGGG:GGGGGGGGG,NC_000007.14:140349538:GGGGGGGGGG:GGGGGGGGGGG,NC_000007.14:140349538:GGGGGGGGGG:GGGGGGGGGGGG
Gene:: SLC37A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGG=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
-=0.06688/248 (TWINSUK)
-=0.06928/267 (ALSPAC)
-=0.09699/425 (Estonian)
HGVS:: NC_000007.14:g.140349547_140349548del, NC_000007.14:g.140349548del, NC_000007.14:g.140349548dup, NC_000007.14:g.140349547_140349548dup, NC_000007.13:g.140049347_140049348del, NC_000007.13:g.140049348del, NC_000007.13:g.140049348dup, NC_000007.13:g.140049347_140049348dup

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