SNP Links for Gene (Select 9783) - SNP

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Select item 14915870091.

rs1491587009 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 1:40656784 (GRCh38)
1:41122457 (GRCh37)
Canonical SPDI:: NC_000001.11:40656784:A:ACA
Gene:: RIMS3 (Varview), LOC105378675 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0.00017/2 (ALFA)
AC=0.00003/3 (GnomAD)
HGVS:: NC_000001.11:g.40656785_40656786insCA, NC_000001.10:g.41122457_41122458insCA

Select item 14915282322.

rs1491528232 has merged into rs34448324 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:40657758 (GRCh38)
1:41123430 (GRCh37)
Canonical SPDI:: NC_000001.11:40657746:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:40657746:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:40657746:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:40657746:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:40657746:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:40657746:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:40657746:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:40657746:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:40657746:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:40657746:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:40657746:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:40657746:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:40657746:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:40657746:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:40657746:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:40657746:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RIMS3 (Varview), LOC105378675 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.40657758_40657770del, NC_000001.11:g.40657759_40657770del, NC_000001.11:g.40657760_40657770del, NC_000001.11:g.40657761_40657770del, NC_000001.11:g.40657762_40657770del, NC_000001.11:g.40657763_40657770del, NC_000001.11:g.40657764_40657770del, NC_000001.11:g.40657765_40657770del, NC_000001.11:g.40657766_40657770del, NC_000001.11:g.40657767_40657770del, NC_000001.11:g.40657768_40657770del, NC_000001.11:g.40657769_40657770del, NC_000001.11:g.40657770del, NC_000001.11:g.40657770dup, NC_000001.11:g.40657769_40657770dup, NC_000001.11:g.40657753_40657770dup, NC_000001.10:g.41123430_41123442del, NC_000001.10:g.41123431_41123442del, NC_000001.10:g.41123432_41123442del, NC_000001.10:g.41123433_41123442del, NC_000001.10:g.41123434_41123442del, NC_000001.10:g.41123435_41123442del, NC_000001.10:g.41123436_41123442del, NC_000001.10:g.41123437_41123442del, NC_000001.10:g.41123438_41123442del, NC_000001.10:g.41123439_41123442del, NC_000001.10:g.41123440_41123442del, NC_000001.10:g.41123441_41123442del, NC_000001.10:g.41123442del, NC_000001.10:g.41123442dup, NC_000001.10:g.41123441_41123442dup, NC_000001.10:g.41123425_41123442dup

Select item 14915218143.

rs1491521814 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:40685307 (GRCh38)
1:41150980 (GRCh37)
Canonical SPDI:: NC_000001.11:40685307::T
Gene:: RIMS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00363/43 (ALFA)
T=0.00007/1 (GnomAD)
HGVS:: NC_000001.11:g.40685307_40685308insT, NC_000001.10:g.41150979_41150980insT

Select item 14915099294.

rs1491509929 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:40680329 (GRCh38)
1:41146001 (GRCh37)
Canonical SPDI:: NC_000001.11:40680328:AG:
Gene:: RIMS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.40680329_40680330del, NC_000001.10:g.41146001_41146002del

Select item 14914503535.

rs1491450353 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:40685317 (GRCh38)
1:41150989 (GRCh37)
Canonical SPDI:: NC_000001.11:40685316:AT:
Gene:: RIMS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00211/25 (ALFA)
HGVS:: NC_000001.11:g.40685317_40685318del, NC_000001.10:g.41150989_41150990del

Select item 14914364486.

rs1491436448 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACACACACGTGCACACACACA [Show Flanks]
Chromosome:: 1:40649187 (GRCh38)
1:41114860 (GRCh37)
Canonical SPDI:: NC_000001.11:40649187:CACACACACACACACACACGTGCACACACACA:CACACACACACACACACACGTGCACACACACACACACACACGTGCACACACACA
Gene:: RIMS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACACACACACACACACACGTGCACACACACACACACACACGTGCACACACACA=0./0 (ALFA)
CACACACACACACACACACGTG=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.40649198_40649219dup, NC_000001.10:g.41114870_41114891dup

Select item 14914174717.

rs1491417471 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 1:40685358 (GRCh38)
1:41151030 (GRCh37)
Canonical SPDI:: NC_000001.11:40685353:TATATA:TATA,NC_000001.11:40685353:TATATA:TATATATA
Gene:: RIMS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000025/1 (GnomAD)
HGVS:: NC_000001.11:g.40685354TA[2], NC_000001.11:g.40685354TA[4], NC_000001.10:g.41151026TA[2], NC_000001.10:g.41151026TA[4]

Select item 14914166558.

rs1491416655 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:40680328 (GRCh38)
1:41146000 (GRCh37)
Canonical SPDI:: NC_000001.11:40680326:ATA:A
Gene:: RIMS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.40680328_40680329del, NC_000001.10:g.41146000_41146001del

Select item 14914050149.

rs1491405014 has merged into rs71866233 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 1:40685293 (GRCh38)
1:41150965 (GRCh37)
Canonical SPDI:: NC_000001.11:40685286:ATATATATAT:ATATAT,NC_000001.11:40685286:ATATATATAT:ATATATAT,NC_000001.11:40685286:ATATATATAT:ATATATATATAT,NC_000001.11:40685286:ATATATATAT:ATATATATATATAT
Gene:: RIMS3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAT=0./0 (ALFA)
-=0.01843/23 (Korea1K)
-=0.03662/417 (TOMMO)
-=0.08666/434 (1000Genomes)
-=0.17857/95 (NorthernSweden)
HGVS:: NC_000001.11:g.40685287AT[3], NC_000001.11:g.40685287AT[4], NC_000001.11:g.40685287AT[6], NC_000001.11:g.40685287AT[7], NC_000001.10:g.41150959AT[3], NC_000001.10:g.41150959AT[4], NC_000001.10:g.41150959AT[6], NC_000001.10:g.41150959AT[7]

Select item 149140489610.

rs1491404896 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TTTTT [Show Flanks]
Chromosome:: 1:40670573 (GRCh38)
1:41136245 (GRCh37)
Canonical SPDI:: NC_000001.11:40670571:TTTT:T,NC_000001.11:40670571:TTTT:TT,NC_000001.11:40670571:TTTT:TTTTTT
Gene:: RIMS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000177/5 (TOMMO)
HGVS:: NC_000001.11:g.40670573_40670575del, NC_000001.11:g.40670574_40670575del, NC_000001.11:g.40670574_40670575dup, NC_000001.10:g.41136245_41136247del, NC_000001.10:g.41136246_41136247del, NC_000001.10:g.41136246_41136247dup

Select item 149138272811.

rs1491382728 has merged into rs56114535 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGAGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG,GGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGTGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGTGGGGGGGGGGGGGGGGG,GGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGTGGGGGGGGGGGGGGGGG,GGGGGGGTGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGTGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGTGGGGGGGGGGGGGGGGG,GGGGGGTGGGGGGGGGGGGGGGGGGGGG,GGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 1:40668501 (GRCh38)
1:41134173 (GRCh37)
Canonical SPDI:: NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:40668491:GGGGGGGGGGGGG:GGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: RIMS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000001.11:g.40668501_40668504del, NC_000001.11:g.40668502_40668504del, NC_000001.11:g.40668503_40668504del, NC_000001.11:g.40668504del, NC_000001.11:g.40668504dup, NC_000001.11:g.40668503_40668504dup, NC_000001.11:g.40668502_40668504dup, NC_000001.11:g.40668501_40668504dup, NC_000001.11:g.40668500_40668504dup, NC_000001.11:g.40668493_40668504dup, NC_000001.11:g.40668492_40668504G[25]AGGGGGGGGGGGGGGGG[1], NC_000001.11:g.40668492_40668504dup, NC_000001.11:g.40668504_40668505insGGGGGGGGGGGGGG, NC_000001.11:g.40668504_40668505insGGGGGGGGGGGGGGG, NC_000001.11:g.40668504_40668505insGGGGGGGGGGGGGGGG, NC_000001.11:g.40668504_40668505insGGGGGGGGGGGGGGGGG, NC_000001.11:g.40668504_40668505insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000001.11:g.40668504_40668505insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000001.11:g.40668492_40668504G[30]TGGGGGGGGGGGGGGGGG[1], NC_000001.11:g.40668492_40668504G[28]TGGGGGGGGGGGGGGGGG[1], NC_000001.11:g.40668492_40668504G[20]TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.11:g.40668492_40668504G[19]TGGGGGGGGGGGGGGGGGGG[1], NC_000001.11:g.40668492_40668504G[19]TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.11:g.40668492_40668504G[18]TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.11:g.40668492_40668504G[17]TGGGGGGGGGGGGGGGGG[1], NC_000001.11:g.40668492_40668504G[17]TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.11:g.40668492_40668504G[16]TGGGGGGGGGGGGGGGGG[1], NC_000001.11:g.40668492_40668504G[16]TGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.11:g.40668492_40668504G[16]TGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.11:g.40668492_40668504G[16]TGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.11:g.40668492_40668504G[16]TGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.11:g.40668492_40668504G[16]TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.11:g.40668492_40668504G[15]TGGGGGGGGGGGGGGGGG[1], NC_000001.11:g.40668492_40668504G[15]TGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.11:g.40668492_40668504G[15]TGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.11:g.40668492_40668504G[15]TGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.11:g.40668492_40668504G[15]TGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.11:g.40668492_40668504G[14]TGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.11:g.40668492_40668504G[14]TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134173_41134176del, NC_000001.10:g.41134174_41134176del, NC_000001.10:g.41134175_41134176del, NC_000001.10:g.41134176del, NC_000001.10:g.41134176dup, NC_000001.10:g.41134175_41134176dup, NC_000001.10:g.41134174_41134176dup, NC_000001.10:g.41134173_41134176dup, NC_000001.10:g.41134172_41134176dup, NC_000001.10:g.41134165_41134176dup, NC_000001.10:g.41134164_41134176G[25]AGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134164_41134176dup, NC_000001.10:g.41134176_41134177insGGGGGGGGGGGGGG, NC_000001.10:g.41134176_41134177insGGGGGGGGGGGGGGG, NC_000001.10:g.41134176_41134177insGGGGGGGGGGGGGGGG, NC_000001.10:g.41134176_41134177insGGGGGGGGGGGGGGGGG, NC_000001.10:g.41134176_41134177insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000001.10:g.41134176_41134177insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000001.10:g.41134164_41134176G[30]TGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134164_41134176G[28]TGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134164_41134176G[20]TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134164_41134176G[19]TGGGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134164_41134176G[19]TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134164_41134176G[18]TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134164_41134176G[17]TGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134164_41134176G[17]TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134164_41134176G[16]TGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134164_41134176G[16]TGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134164_41134176G[16]TGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134164_41134176G[16]TGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134164_41134176G[16]TGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134164_41134176G[16]TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134164_41134176G[15]TGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134164_41134176G[15]TGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134164_41134176G[15]TGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134164_41134176G[15]TGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134164_41134176G[15]TGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134164_41134176G[14]TGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.41134164_41134176G[14]TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1]

Select item 149136261512.

rs1491362615 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:40685307 (GRCh38)
1:41150979 (GRCh37)
Canonical SPDI:: NC_000001.11:40685306:AA:
Gene:: RIMS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00034/6 (GnomAD)
HGVS:: NC_000001.11:g.40685307_40685308del, NC_000001.10:g.41150979_41150980del

Select item 149136236713.

rs1491362367 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:40680329 (GRCh38)
1:41146002 (GRCh37)
Canonical SPDI:: NC_000001.11:40680329::T
Gene:: RIMS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.40680329_40680330insT, NC_000001.10:g.41146001_41146002insT

Select item 149132321514.

rs1491323215 has merged into rs57983058 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:40656798 (GRCh38)
1:41122470 (GRCh37)
Canonical SPDI:: NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RIMS3 (Varview), LOC105378675 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.40656798_40656802del, NC_000001.11:g.40656799_40656802del, NC_000001.11:g.40656800_40656802del, NC_000001.11:g.40656801_40656802del, NC_000001.11:g.40656802del, NC_000001.11:g.40656802dup, NC_000001.11:g.40656801_40656802dup, NC_000001.11:g.40656800_40656802dup, NC_000001.11:g.40656799_40656802dup, NC_000001.11:g.40656797_40656802dup, NC_000001.11:g.40656795_40656802dup, NC_000001.10:g.41122470_41122474del, NC_000001.10:g.41122471_41122474del, NC_000001.10:g.41122472_41122474del, NC_000001.10:g.41122473_41122474del, NC_000001.10:g.41122474del, NC_000001.10:g.41122474dup, NC_000001.10:g.41122473_41122474dup, NC_000001.10:g.41122472_41122474dup, NC_000001.10:g.41122471_41122474dup, NC_000001.10:g.41122469_41122474dup, NC_000001.10:g.41122467_41122474dup

Select item 149131589715.

rs1491315897 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGG [Show Flanks]
Chromosome:: 1:40668492 (GRCh38)
1:41134165 (GRCh37)
Canonical SPDI:: NC_000001.11:40668492:GG:GGCGG
Gene:: RIMS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGCGG=0./0 (ALFA)
GGC=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.40668494_40668495insCGG, NC_000001.10:g.41134166_41134167insCGG

Select item 149130338016.

rs1491303380 has merged into rs60193626 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:40642967 (GRCh38)
1:41108639 (GRCh37)
Canonical SPDI:: NC_000001.11:40642955:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:40642955:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:40642955:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:40642955:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:40642955:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:40642955:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:40642955:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: RIMS3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
AAA=0.3544/1775 (1000Genomes)
HGVS:: NC_000001.11:g.40642967_40642970del, NC_000001.11:g.40642968_40642970del, NC_000001.11:g.40642969_40642970del, NC_000001.11:g.40642970del, NC_000001.11:g.40642970dup, NC_000001.11:g.40642969_40642970dup, NC_000001.11:g.40642963_40642970dup, NC_000001.10:g.41108639_41108642del, NC_000001.10:g.41108640_41108642del, NC_000001.10:g.41108641_41108642del, NC_000001.10:g.41108642del, NC_000001.10:g.41108642dup, NC_000001.10:g.41108641_41108642dup, NC_000001.10:g.41108635_41108642dup

Select item 149130133617.

rs1491301336 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:40685286 (GRCh38)
1:41150958 (GRCh37)
Canonical SPDI:: NC_000001.11:40685285:AA:
Gene:: RIMS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00109/48 (GnomAD)
HGVS:: NC_000001.11:g.40685286_40685287del, NC_000001.10:g.41150958_41150959del

Select item 149128889218.

rs1491288892 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:40668249 (GRCh38)
1:41133921 (GRCh37)
Canonical SPDI:: NC_000001.11:40668248:CA:
Gene:: RIMS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.40668249_40668250del, NC_000001.10:g.41133921_41133922del

Select item 149127882119.

rs1491278821 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:40680327 (GRCh38)
1:41146000 (GRCh37)
Canonical SPDI:: NC_000001.11:40680327::G
Gene:: RIMS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.40680327_40680328insG, NC_000001.10:g.41145999_41146000insG

Select item 149126202320.

rs1491262023 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 1:40670575 (GRCh38)
1:41136248 (GRCh37)
Canonical SPDI:: NC_000001.11:40670575:A:ACA
Gene:: RIMS3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000001.11:g.40670576_40670577insCA, NC_000001.10:g.41136248_41136249insCA

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