SNP Links for Gene (Select 388558) - SNP

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Select item 14915601851.

rs1491560185 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:52533843 (GRCh38)
19:53037096 (GRCh37)
Canonical SPDI:: NC_000019.10:52533842:CA:
Gene:: ZNF808 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00185/22 (ALFA)
-=0.00023/12 (GnomAD)
HGVS:: NC_000019.10:g.52533843_52533844del, NC_000019.9:g.53037096_53037097del

Select item 14915385252.

rs1491538525 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 19:52566146 (GRCh38)
19:53069400 (GRCh37)
Canonical SPDI:: NC_000019.10:52566146:A:ACA
Gene:: ZNF808 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
AC=0.000004/1 (TOPMED)
AC=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.52566147_52566148insCA, NC_000019.9:g.53069400_53069401insCA, XR_002958314.2:n.6129_6130insCA

Select item 14915140613.

rs1491514061 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:52535330 (GRCh38)
19:53038583 (GRCh37)
Canonical SPDI:: NC_000019.10:52535329:CA:
Gene:: ZNF808 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00101/12 (ALFA)
-=0.00171/42 (TOMMO)
HGVS:: NC_000019.10:g.52535330_52535331del, NC_000019.9:g.53038583_53038584del

Select item 14914580594.

rs1491458059 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:52539546 (GRCh38)
19:53042799 (GRCh37)
Canonical SPDI:: NC_000019.10:52539544:GTG:G
Gene:: ZNF808 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000037/4 (GnomAD)
HGVS:: NC_000019.10:g.52539546_52539547del, NC_000019.9:g.53042799_53042800del

Select item 14914155765.

rs1491415576 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:52539548 (GRCh38)
19:53042801 (GRCh37)
Canonical SPDI:: NC_000019.10:52539547:GT:
Gene:: ZNF808 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
-=0.00015/10 (GnomAD)
HGVS:: NC_000019.10:g.52539548_52539549del, NC_000019.9:g.53042801_53042802del

Select item 14914065766.

rs1491406576 has merged into rs1172936091 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:52546953 (GRCh38)
19:53050206 (GRCh37)
Canonical SPDI:: NC_000019.10:52546943:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:52546943:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:52546943:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:52546943:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:52546943:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:52546943:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:52546943:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:52546943:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:52546943:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:52546943:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52546943:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52546943:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52546943:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52546943:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52546943:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52546943:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52546943:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52546943:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52546943:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52546943:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF808 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.52546953_52546966del, NC_000019.10:g.52546954_52546966del, NC_000019.10:g.52546955_52546966del, NC_000019.10:g.52546958_52546966del, NC_000019.10:g.52546960_52546966del, NC_000019.10:g.52546961_52546966del, NC_000019.10:g.52546962_52546966del, NC_000019.10:g.52546963_52546966del, NC_000019.10:g.52546964_52546966del, NC_000019.10:g.52546965_52546966del, NC_000019.10:g.52546966del, NC_000019.10:g.52546966dup, NC_000019.10:g.52546965_52546966dup, NC_000019.10:g.52546964_52546966dup, NC_000019.10:g.52546963_52546966dup, NC_000019.10:g.52546962_52546966dup, NC_000019.10:g.52546944_52546966T[28]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.52546961_52546966dup, NC_000019.10:g.52546955_52546966dup, NC_000019.10:g.52546946_52546966dup, NC_000019.9:g.53050206_53050219del, NC_000019.9:g.53050207_53050219del, NC_000019.9:g.53050208_53050219del, NC_000019.9:g.53050211_53050219del, NC_000019.9:g.53050213_53050219del, NC_000019.9:g.53050214_53050219del, NC_000019.9:g.53050215_53050219del, NC_000019.9:g.53050216_53050219del, NC_000019.9:g.53050217_53050219del, NC_000019.9:g.53050218_53050219del, NC_000019.9:g.53050219del, NC_000019.9:g.53050219dup, NC_000019.9:g.53050218_53050219dup, NC_000019.9:g.53050217_53050219dup, NC_000019.9:g.53050216_53050219dup, NC_000019.9:g.53050215_53050219dup, NC_000019.9:g.53050197_53050219T[28]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.53050214_53050219dup, NC_000019.9:g.53050208_53050219dup, NC_000019.9:g.53050199_53050219dup

Select item 14913968277.

rs1491396827 has merged into rs35937083 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:52546202 (GRCh38)
19:53049455 (GRCh37)
Canonical SPDI:: NC_000019.10:52546188:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:52546188:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:52546188:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:52546188:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:52546188:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:52546188:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:52546188:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:52546188:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52546188:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF808 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3273/1639 (1000Genomes)
HGVS:: NC_000019.10:g.52546202_52546204del, NC_000019.10:g.52546203_52546204del, NC_000019.10:g.52546204del, NC_000019.10:g.52546204dup, NC_000019.10:g.52546203_52546204dup, NC_000019.10:g.52546202_52546204dup, NC_000019.10:g.52546201_52546204dup, NC_000019.10:g.52546200_52546204dup, NC_000019.10:g.52546194_52546204dup, NC_000019.9:g.53049455_53049457del, NC_000019.9:g.53049456_53049457del, NC_000019.9:g.53049457del, NC_000019.9:g.53049457dup, NC_000019.9:g.53049456_53049457dup, NC_000019.9:g.53049455_53049457dup, NC_000019.9:g.53049454_53049457dup, NC_000019.9:g.53049453_53049457dup, NC_000019.9:g.53049447_53049457dup

Select item 14913322968.

rs1491332296 has merged into rs201852253 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 19:52529919 (GRCh38)
19:53033172 (GRCh37)
Canonical SPDI:: NC_000019.10:52529911:TTTTTTTTTTTT:TTTTTTT,NC_000019.10:52529911:TTTTTTTTTTTT:TTTTTTTT,NC_000019.10:52529911:TTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:52529911:TTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:52529911:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:52529911:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:52529911:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:52529911:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:52529911:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: ZNF808 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.00669/4 (NorthernSweden)
HGVS:: NC_000019.10:g.52529919_52529923del, NC_000019.10:g.52529920_52529923del, NC_000019.10:g.52529921_52529923del, NC_000019.10:g.52529922_52529923del, NC_000019.10:g.52529923del, NC_000019.10:g.52529923dup, NC_000019.10:g.52529922_52529923dup, NC_000019.10:g.52529921_52529923dup, NC_000019.10:g.52529920_52529923dup, NC_000019.9:g.53033172_53033176del, NC_000019.9:g.53033173_53033176del, NC_000019.9:g.53033174_53033176del, NC_000019.9:g.53033175_53033176del, NC_000019.9:g.53033176del, NC_000019.9:g.53033176dup, NC_000019.9:g.53033175_53033176dup, NC_000019.9:g.53033174_53033176dup, NC_000019.9:g.53033173_53033176dup

Select item 14913032889.

rs1491303288 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:52552704 (GRCh38)
19:53055958 (GRCh37)
Canonical SPDI:: NC_000019.10:52552704::G
Gene:: ZNF808 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00004/1 (GnomAD)
HGVS:: NC_000019.10:g.52552704_52552705insG, NC_000019.9:g.53055957_53055958insG

Select item 149129113110.

rs1491291131 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TT,TTT,TTTT,TTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:52539545 (GRCh38)
19:53042799 (GRCh37)
Canonical SPDI:: NC_000019.10:52539545:T:TT,NC_000019.10:52539545:T:TTT,NC_000019.10:52539545:T:TTTT,NC_000019.10:52539545:T:TTTTT,NC_000019.10:52539545:T:TTTTTT,NC_000019.10:52539545:T:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52539545:T:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52539545:T:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52539545:T:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52539545:T:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52539545:T:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT
Gene:: ZNF808 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.00014/2 (TOMMO)
HGVS:: NC_000019.10:g.52539546dup, NC_000019.10:g.52539546_52539547insTT, NC_000019.10:g.52539546_52539547insTTT, NC_000019.10:g.52539546_52539547insTTTT, NC_000019.10:g.52539546_52539547insTTTTT, NC_000019.10:g.52539546_52539547insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.52539546_52539547insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.52539546_52539547insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.52539546_52539547insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.52539546_52539547insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.52539546T[72]CTTTTTTTTTTTTT[1], NC_000019.9:g.53042799dup, NC_000019.9:g.53042799_53042800insTT, NC_000019.9:g.53042799_53042800insTTT, NC_000019.9:g.53042799_53042800insTTTT, NC_000019.9:g.53042799_53042800insTTTTT, NC_000019.9:g.53042799_53042800insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.53042799_53042800insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.53042799_53042800insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.53042799_53042800insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.53042799_53042800insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.53042799T[72]CTTTTTTTTTTTTT[1]

Select item 149128279111.

rs1491282791 has merged into rs919374020 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:52533853 (GRCh38)
19:53037106 (GRCh37)
Canonical SPDI:: NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52533843:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF808 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.52533853_52533867del, NC_000019.10:g.52533854_52533867del, NC_000019.10:g.52533855_52533867del, NC_000019.10:g.52533856_52533867del, NC_000019.10:g.52533857_52533867del, NC_000019.10:g.52533858_52533867del, NC_000019.10:g.52533859_52533867del, NC_000019.10:g.52533860_52533867del, NC_000019.10:g.52533861_52533867del, NC_000019.10:g.52533862_52533867del, NC_000019.10:g.52533863_52533867del, NC_000019.10:g.52533864_52533867del, NC_000019.10:g.52533865_52533867del, NC_000019.10:g.52533866_52533867del, NC_000019.10:g.52533867del, NC_000019.10:g.52533867dup, NC_000019.10:g.52533866_52533867dup, NC_000019.10:g.52533865_52533867dup, NC_000019.10:g.52533864_52533867dup, NC_000019.10:g.52533863_52533867dup, NC_000019.10:g.52533862_52533867dup, NC_000019.10:g.52533861_52533867dup, NC_000019.10:g.52533860_52533867dup, NC_000019.9:g.53037106_53037120del, NC_000019.9:g.53037107_53037120del, NC_000019.9:g.53037108_53037120del, NC_000019.9:g.53037109_53037120del, NC_000019.9:g.53037110_53037120del, NC_000019.9:g.53037111_53037120del, NC_000019.9:g.53037112_53037120del, NC_000019.9:g.53037113_53037120del, NC_000019.9:g.53037114_53037120del, NC_000019.9:g.53037115_53037120del, NC_000019.9:g.53037116_53037120del, NC_000019.9:g.53037117_53037120del, NC_000019.9:g.53037118_53037120del, NC_000019.9:g.53037119_53037120del, NC_000019.9:g.53037120del, NC_000019.9:g.53037120dup, NC_000019.9:g.53037119_53037120dup, NC_000019.9:g.53037118_53037120dup, NC_000019.9:g.53037117_53037120dup, NC_000019.9:g.53037116_53037120dup, NC_000019.9:g.53037115_53037120dup, NC_000019.9:g.53037114_53037120dup, NC_000019.9:g.53037113_53037120dup

Select item 149127634312.

rs1491276343 has merged into rs36115849 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 19:52560335 (GRCh38)
19:53063588 (GRCh37)
Canonical SPDI:: NC_000019.10:52560325:AAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:52560325:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:52560325:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:52560325:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:52560325:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: ZNF808 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.013995/64 (1000Genomes)
A=0.063545/38 (NorthernSweden)
A=0.15/6 (GENOME_DK)
HGVS:: NC_000019.10:g.52560335_52560338del, NC_000019.10:g.52560337_52560338del, NC_000019.10:g.52560338del, NC_000019.10:g.52560338dup, NC_000019.10:g.52560337_52560338dup, NC_000019.9:g.53063588_53063591del, NC_000019.9:g.53063590_53063591del, NC_000019.9:g.53063591del, NC_000019.9:g.53063591dup, NC_000019.9:g.53063590_53063591dup

Select item 149125092513.

rs1491250925 has merged into rs33948596 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:52552716 (GRCh38)
19:53055969 (GRCh37)
Canonical SPDI:: NC_000019.10:52552703:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:52552703:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:52552703:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:52552703:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:52552703:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:52552703:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:52552703:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF808 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.3884/1945 (1000Genomes)
HGVS:: NC_000019.10:g.52552716_52552718del, NC_000019.10:g.52552717_52552718del, NC_000019.10:g.52552718del, NC_000019.10:g.52552718dup, NC_000019.10:g.52552717_52552718dup, NC_000019.10:g.52552716_52552718dup, NC_000019.10:g.52552718_52552719insTTTTTTTTTTTTTTTTTT, NC_000019.9:g.53055969_53055971del, NC_000019.9:g.53055970_53055971del, NC_000019.9:g.53055971del, NC_000019.9:g.53055971dup, NC_000019.9:g.53055970_53055971dup, NC_000019.9:g.53055969_53055971dup, NC_000019.9:g.53055971_53055972insTTTTTTTTTTTTTTTTTT

Select item 149123594714.

rs1491235947 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CT
Chromosome:: no mapping
Canonical SPDI:

Select item 149122791015.

rs1491227910 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:52552703 (GRCh38)
19:53055956 (GRCh37)
Canonical SPDI:: NC_000019.10:52552702:GT:
Gene:: ZNF808 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000422/5 (ALFA)
-=0.00023/61 (TOPMED)
-=0.000255/24 (GnomAD)
HGVS:: NC_000019.10:g.52552703_52552704del, NC_000019.9:g.53055956_53055957del

Select item 149119695616.

rs1491196956 [Homo sapiens]

Variant type:: INS
Alleles:: ->GT,GTT,GTTT,GTTTT,GTTTTT,GTTTTTT,GTTTTTTT,GTTTTTTTT,GTTTTTTTTTTTTTTT,GTTTTTTTTTTTTTTTTTTTTT,GTTTTTTTTTTTTTTTTTTTTTT,GTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:52547739 (GRCh38)
19:53050993 (GRCh37)
Canonical SPDI:: NC_000019.10:52547739::GT,NC_000019.10:52547739::GTT,NC_000019.10:52547739::GTTT,NC_000019.10:52547739::GTTTT,NC_000019.10:52547739::GTTTTT,NC_000019.10:52547739::GTTTTTT,NC_000019.10:52547739::GTTTTTTT,NC_000019.10:52547739::GTTTTTTTT,NC_000019.10:52547739::GTTTTTTTTTTTTTTT,NC_000019.10:52547739::GTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52547739::GTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52547739::GTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF808 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.52547739_52547740insGT, NC_000019.10:g.52547739_52547740insGTT, NC_000019.10:g.52547739_52547740insGTTT, NC_000019.10:g.52547739_52547740insGTTTT, NC_000019.10:g.52547739_52547740insGTTTTT, NC_000019.10:g.52547739_52547740insGTTTTTT, NC_000019.10:g.52547739_52547740insGTTTTTTT, NC_000019.10:g.52547739_52547740insGTTTTTTTT, NC_000019.10:g.52547739_52547740insGTTTTTTTTTTTTTTT, NC_000019.10:g.52547739_52547740insGTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.52547739_52547740insGTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.52547739_52547740insGTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.53050992_53050993insGT, NC_000019.9:g.53050992_53050993insGTT, NC_000019.9:g.53050992_53050993insGTTT, NC_000019.9:g.53050992_53050993insGTTTT, NC_000019.9:g.53050992_53050993insGTTTTT, NC_000019.9:g.53050992_53050993insGTTTTTT, NC_000019.9:g.53050992_53050993insGTTTTTTT, NC_000019.9:g.53050992_53050993insGTTTTTTTT, NC_000019.9:g.53050992_53050993insGTTTTTTTTTTTTTTT, NC_000019.9:g.53050992_53050993insGTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.53050992_53050993insGTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.53050992_53050993insGTTTTTTTTTTTTTTTTTTTTTTT

Select item 149115322117.

rs1491153221 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 19:52539204 (GRCh38)
19:53042457 (GRCh37)
Canonical SPDI:: NC_000019.10:52539203:TA:
Gene:: ZNF808 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.52539204_52539205del, NC_000019.9:g.53042457_53042458del

Select item 149113591118.

rs1491135911 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:52539184 (GRCh38)
19:53042437 (GRCh37)
Canonical SPDI:: NC_000019.10:52539183:AT:
Gene:: ZNF808 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
-=0.00028/26 (GnomAD)
HGVS:: NC_000019.10:g.52539184_52539185del, NC_000019.9:g.53042437_53042438del

Select item 149112834119.

rs1491128341 has merged into rs560559835 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:52535340 (GRCh38)
19:53038593 (GRCh37)
Canonical SPDI:: NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52535330:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF808 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.0131/7 (NorthernSweden)
-=0.075/3 (GENOME_DK)
HGVS:: NC_000019.10:g.52535340_52535355del, NC_000019.10:g.52535342_52535355del, NC_000019.10:g.52535343_52535355del, NC_000019.10:g.52535344_52535355del, NC_000019.10:g.52535345_52535355del, NC_000019.10:g.52535346_52535355del, NC_000019.10:g.52535347_52535355del, NC_000019.10:g.52535348_52535355del, NC_000019.10:g.52535349_52535355del, NC_000019.10:g.52535350_52535355del, NC_000019.10:g.52535351_52535355del, NC_000019.10:g.52535352_52535355del, NC_000019.10:g.52535353_52535355del, NC_000019.10:g.52535354_52535355del, NC_000019.10:g.52535355del, NC_000019.10:g.52535355dup, NC_000019.10:g.52535354_52535355dup, NC_000019.10:g.52535353_52535355dup, NC_000019.10:g.52535352_52535355dup, NC_000019.10:g.52535351_52535355dup, NC_000019.10:g.52535350_52535355dup, NC_000019.10:g.52535349_52535355dup, NC_000019.10:g.52535348_52535355dup, NC_000019.10:g.52535355_52535356insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.53038593_53038608del, NC_000019.9:g.53038595_53038608del, NC_000019.9:g.53038596_53038608del, NC_000019.9:g.53038597_53038608del, NC_000019.9:g.53038598_53038608del, NC_000019.9:g.53038599_53038608del, NC_000019.9:g.53038600_53038608del, NC_000019.9:g.53038601_53038608del, NC_000019.9:g.53038602_53038608del, NC_000019.9:g.53038603_53038608del, NC_000019.9:g.53038604_53038608del, NC_000019.9:g.53038605_53038608del, NC_000019.9:g.53038606_53038608del, NC_000019.9:g.53038607_53038608del, NC_000019.9:g.53038608del, NC_000019.9:g.53038608dup, NC_000019.9:g.53038607_53038608dup, NC_000019.9:g.53038606_53038608dup, NC_000019.9:g.53038605_53038608dup, NC_000019.9:g.53038604_53038608dup, NC_000019.9:g.53038603_53038608dup, NC_000019.9:g.53038602_53038608dup, NC_000019.9:g.53038601_53038608dup, NC_000019.9:g.53038608_53038609insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149110633420.

rs1491106334 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG [Show Flanks]
Chromosome:: 19:52542958 (GRCh38)
19:53046212 (GRCh37)
Canonical SPDI:: NC_000019.10:52542958::TG
Gene:: ZNF808 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TG=0./0 (ALFA)
TG=0.00003/4 (GnomAD)
HGVS:: NC_000019.10:g.52542958_52542959insTG, NC_000019.9:g.53046211_53046212insTG

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