SNP Links for Gene (Select 114659) - SNP

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Select item 14915592051.

rs1491559205 has merged into rs11318580 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG [Show Flanks]
Chromosome:: 17:32052978 (GRCh38)
17:30379997 (GRCh37)
Canonical SPDI:: NC_000017.11:32052970:GGGGGGGGG:GGGGGGG,NC_000017.11:32052970:GGGGGGGGG:GGGGGGGG,NC_000017.11:32052970:GGGGGGGGG:GGGGGGGGGG,NC_000017.11:32052970:GGGGGGGGG:GGGGGGGGGGG
Gene:: LRRC37B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGG=0./0 (ALFA)
-=0.075/3 (GENOME_DK)
-=0.130259/483 (TWINSUK)
-=0.138298/533 (ALSPAC)
-=0.200679/1005 (1000Genomes)
-=0.206347/54618 (TOPMED)
HGVS:: NC_000017.11:g.32052978_32052979del, NC_000017.11:g.32052979del, NC_000017.11:g.32052979dup, NC_000017.11:g.32052978_32052979dup, NC_000017.10:g.30379997_30379998del, NC_000017.10:g.30379998del, NC_000017.10:g.30379998dup, NC_000017.10:g.30379997_30379998dup

Select item 14915380122.

rs1491538012 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:32027393 (GRCh38)
17:30354412 (GRCh37)
Canonical SPDI:: NC_000017.11:32027392:AT:
Gene:: LRRC37B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000024/3 (GnomAD)
HGVS:: NC_000017.11:g.32027393_32027394del, NC_000017.10:g.30354412_30354413del

Select item 14915039403.

rs1491503940 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:32006102 (GRCh38)
17:30333121 (GRCh37)
Canonical SPDI:: NC_000017.11:32006099:ATAT:AT
Gene:: LRRC37B (Varview), LOC124903972 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0.000071/1 (ALFA)
-=0.000048/6 (GnomAD)
HGVS:: NC_000017.11:g.32006100AT[1], NC_000017.10:g.30333119AT[1]

Select item 14914796364.

rs1491479636 has merged into rs796570580 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:32046604 (GRCh38)
17:30373623 (GRCh37)
Canonical SPDI:: NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32046599:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LRRC37B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.32046604_32046617del, NC_000017.11:g.32046608_32046617del, NC_000017.11:g.32046610_32046617del, NC_000017.11:g.32046611_32046617del, NC_000017.11:g.32046612_32046617del, NC_000017.11:g.32046614_32046617del, NC_000017.11:g.32046615_32046617del, NC_000017.11:g.32046616_32046617del, NC_000017.11:g.32046617del, NC_000017.11:g.32046617dup, NC_000017.11:g.32046616_32046617dup, NC_000017.11:g.32046615_32046617dup, NC_000017.11:g.32046614_32046617dup, NC_000017.11:g.32046613_32046617dup, NC_000017.11:g.32046612_32046617dup, NC_000017.11:g.32046611_32046617dup, NC_000017.11:g.32046610_32046617dup, NC_000017.11:g.32046609_32046617dup, NC_000017.11:g.32046606_32046617dup, NC_000017.11:g.32046605_32046617dup, NC_000017.11:g.32046604_32046617dup, NC_000017.11:g.32046603_32046617dup, NC_000017.11:g.32046601_32046617dup, NC_000017.11:g.32046617_32046618insTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.32046617_32046618insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.30373623_30373636del, NC_000017.10:g.30373627_30373636del, NC_000017.10:g.30373629_30373636del, NC_000017.10:g.30373630_30373636del, NC_000017.10:g.30373631_30373636del, NC_000017.10:g.30373633_30373636del, NC_000017.10:g.30373634_30373636del, NC_000017.10:g.30373635_30373636del, NC_000017.10:g.30373636del, NC_000017.10:g.30373636dup, NC_000017.10:g.30373635_30373636dup, NC_000017.10:g.30373634_30373636dup, NC_000017.10:g.30373633_30373636dup, NC_000017.10:g.30373632_30373636dup, NC_000017.10:g.30373631_30373636dup, NC_000017.10:g.30373630_30373636dup, NC_000017.10:g.30373629_30373636dup, NC_000017.10:g.30373628_30373636dup, NC_000017.10:g.30373625_30373636dup, NC_000017.10:g.30373624_30373636dup, NC_000017.10:g.30373623_30373636dup, NC_000017.10:g.30373622_30373636dup, NC_000017.10:g.30373620_30373636dup, NC_000017.10:g.30373636_30373637insTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.30373636_30373637insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914430895.

rs1491443089 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:32006100 (GRCh38)
17:30333120 (GRCh37)
Canonical SPDI:: NC_000017.11:32006100:T:TT
Gene:: LRRC37B (Varview), LOC124903972 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000017.11:g.32006101dup, NC_000017.10:g.30333120dup

Select item 14914412776.

rs1491441277 has merged into rs772444987 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:32025042 (GRCh38)
17:30352061 (GRCh37)
Canonical SPDI:: NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:32025030:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LRRC37B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.32025042_32025052del, NC_000017.11:g.32025045_32025052del, NC_000017.11:g.32025047_32025052del, NC_000017.11:g.32025048_32025052del, NC_000017.11:g.32025049_32025052del, NC_000017.11:g.32025050_32025052del, NC_000017.11:g.32025051_32025052del, NC_000017.11:g.32025052del, NC_000017.11:g.32025052dup, NC_000017.11:g.32025051_32025052dup, NC_000017.11:g.32025050_32025052dup, NC_000017.11:g.32025049_32025052dup, NC_000017.11:g.32025048_32025052dup, NC_000017.11:g.32025047_32025052dup, NC_000017.11:g.32025046_32025052dup, NC_000017.11:g.32025045_32025052dup, NC_000017.11:g.32025031_32025052T[30]GTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.11:g.32025044_32025052dup, NC_000017.11:g.32025042_32025052dup, NC_000017.11:g.32025038_32025052dup, NC_000017.11:g.32025034_32025052dup, NC_000017.11:g.32025031_32025052dup, NC_000017.11:g.32025052_32025053insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.30352061_30352071del, NC_000017.10:g.30352064_30352071del, NC_000017.10:g.30352066_30352071del, NC_000017.10:g.30352067_30352071del, NC_000017.10:g.30352068_30352071del, NC_000017.10:g.30352069_30352071del, NC_000017.10:g.30352070_30352071del, NC_000017.10:g.30352071del, NC_000017.10:g.30352071dup, NC_000017.10:g.30352070_30352071dup, NC_000017.10:g.30352069_30352071dup, NC_000017.10:g.30352068_30352071dup, NC_000017.10:g.30352067_30352071dup, NC_000017.10:g.30352066_30352071dup, NC_000017.10:g.30352065_30352071dup, NC_000017.10:g.30352064_30352071dup, NC_000017.10:g.30352050_30352071T[30]GTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.10:g.30352063_30352071dup, NC_000017.10:g.30352061_30352071dup, NC_000017.10:g.30352057_30352071dup, NC_000017.10:g.30352053_30352071dup, NC_000017.10:g.30352050_30352071dup, NC_000017.10:g.30352071_30352072insTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914151397.

rs1491415139 has merged into rs577043037 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT [Show Flanks]
Chromosome:: 17:32049959 (GRCh38)
17:30376978 (GRCh37)
Canonical SPDI:: NC_000017.11:32049953:TTTTTTTTT:TTTTT,NC_000017.11:32049953:TTTTTTTTT:TTTTTTT,NC_000017.11:32049953:TTTTTTTTT:TTTTTTTT,NC_000017.11:32049953:TTTTTTTTT:TTTTTTTTTT
Gene:: LRRC37B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0.000149/3 (ALFA)
-=0.000177/3 (TOMMO)
T=0.000272/72 (TOPMED)
HGVS:: NC_000017.11:g.32049959_32049962del, NC_000017.11:g.32049961_32049962del, NC_000017.11:g.32049962del, NC_000017.11:g.32049962dup, NC_000017.10:g.30376978_30376981del, NC_000017.10:g.30376980_30376981del, NC_000017.10:g.30376981del, NC_000017.10:g.30376981dup

Select item 14913192078.

rs1491319207 has merged into rs4037403 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 17:32042846 (GRCh38)
17:30369865 (GRCh37)
Canonical SPDI:: NC_000017.11:32042835:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:32042835:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:32042835:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:32042835:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:32042835:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:32042835:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:32042835:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:32042835:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: SH3GL1P1 (Varview), LRRC37B (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.277/1387 (1000Genomes)
HGVS:: NC_000017.11:g.32042846_32042849del, NC_000017.11:g.32042847_32042849del, NC_000017.11:g.32042848_32042849del, NC_000017.11:g.32042849del, NC_000017.11:g.32042849dup, NC_000017.11:g.32042848_32042849dup, NC_000017.11:g.32042847_32042849dup, NC_000017.11:g.32042844_32042849dup, NC_000017.10:g.30369865_30369868del, NC_000017.10:g.30369866_30369868del, NC_000017.10:g.30369867_30369868del, NC_000017.10:g.30369868del, NC_000017.10:g.30369868dup, NC_000017.10:g.30369867_30369868dup, NC_000017.10:g.30369866_30369868dup, NC_000017.10:g.30369863_30369868dup

Select item 14912503299.

rs1491250329 has merged into rs370608644 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG [Show Flanks]
Chromosome:: 17:32027402 (GRCh38)
17:30354421 (GRCh37)
Canonical SPDI:: NC_000017.11:32027393:TGTGTGTGTGTG:TGTGTGTG,NC_000017.11:32027393:TGTGTGTGTGTG:TGTGTGTGTG,NC_000017.11:32027393:TGTGTGTGTGTG:TGTGTGTGTGTGTG
Gene:: LRRC37B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTG=0./0 (ALFA)
-=0.00225/38 (TOMMO)
HGVS:: NC_000017.11:g.32027394TG[4], NC_000017.11:g.32027394TG[5], NC_000017.11:g.32027394TG[7], NC_000017.10:g.30354413TG[4], NC_000017.10:g.30354413TG[5], NC_000017.10:g.30354413TG[7]

Select item 149123989410.

rs1491239894 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTT [Show Flanks]
Chromosome:: 17:32046600 (GRCh38)
17:30373620 (GRCh37)
Canonical SPDI:: NC_000017.11:32046600:TTTT:TTTTCTTTT
Gene:: LRRC37B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTCTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.32046601_32046604T[4]CTTTT[1], NC_000017.10:g.30373620_30373623T[4]CTTTT[1]

Select item 149123634911.

rs1491236349 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:32052971 (GRCh38)
17:30379991 (GRCh37)
Canonical SPDI:: NC_000017.11:32052971::C
Gene:: LRRC37B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.32052971_32052972insC, NC_000017.10:g.30379990_30379991insC

Select item 149109783212.

rs1491097832 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:32042836 (GRCh38)
17:30369856 (GRCh37)
Canonical SPDI:: NC_000017.11:32042836::C
Gene:: SH3GL1P1 (Varview), LRRC37B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.32042836_32042837insC, NC_000017.10:g.30369855_30369856insC

Select item 149107050413.

rs1491070504 has merged into rs141872427 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 17:32013724 (GRCh38)
17:30340743 (GRCh37)
Canonical SPDI:: NC_000017.11:32013710:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000017.11:32013710:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000017.11:32013710:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000017.11:32013710:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000017.11:32013710:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32013710:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32013710:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32013710:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32013710:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32013710:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32013710:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32013710:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32013710:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32013710:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:32013710:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: LRRC37B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.0049/20 (1000Genomes)
HGVS:: NC_000017.11:g.32013712GT[6], NC_000017.11:g.32013712GT[7], NC_000017.11:g.32013712GT[8], NC_000017.11:g.32013712GT[9], NC_000017.11:g.32013712GT[10], NC_000017.11:g.32013712GT[11], NC_000017.11:g.32013712GT[13], NC_000017.11:g.32013712GT[14], NC_000017.11:g.32013712GT[15], NC_000017.11:g.32013712GT[16], NC_000017.11:g.32013712GT[17], NC_000017.11:g.32013712GT[18], NC_000017.11:g.32013712GT[19], NC_000017.11:g.32013712GT[20], NC_000017.11:g.32013712GT[23], NC_000017.10:g.30340731GT[6], NC_000017.10:g.30340731GT[7], NC_000017.10:g.30340731GT[8], NC_000017.10:g.30340731GT[9], NC_000017.10:g.30340731GT[10], NC_000017.10:g.30340731GT[11], NC_000017.10:g.30340731GT[13], NC_000017.10:g.30340731GT[14], NC_000017.10:g.30340731GT[15], NC_000017.10:g.30340731GT[16], NC_000017.10:g.30340731GT[17], NC_000017.10:g.30340731GT[18], NC_000017.10:g.30340731GT[19], NC_000017.10:g.30340731GT[20], NC_000017.10:g.30340731GT[23]

Select item 149094484114.

rs1490944841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:32032771 (GRCh38)
17:30359790 (GRCh37)
Canonical SPDI:: NC_000017.11:32032770:C:T
Gene:: LRRC37B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.32032771C>T, NC_000017.10:g.30359790C>T

Select item 149081656615.

rs1490816566 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:32017729 (GRCh38)
17:30344748 (GRCh37)
Canonical SPDI:: NC_000017.11:32017728:C:G
Gene:: LRRC37B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.32017729C>G, NC_000017.10:g.30344748C>G

Select item 149078466416.

rs1490784664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:32052806 (GRCh38)
17:30379825 (GRCh37)
Canonical SPDI:: NC_000017.11:32052805:G:T
Gene:: LRRC37B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.32052806G>T, NC_000017.10:g.30379825G>T

Select item 149070545017.

rs1490705450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:32025390 (GRCh38)
17:30352409 (GRCh37)
Canonical SPDI:: NC_000017.11:32025389:C:T
Gene:: LRRC37B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.32025390C>T, NC_000017.10:g.30352409C>T

Select item 149070245118.

rs1490702451 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:32041386 (GRCh38)
17:30368405 (GRCh37)
Canonical SPDI:: NC_000017.11:32041385:A:G
Gene:: SH3GL1P1 (Varview), LRRC37B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.32041386A>G, NC_000017.10:g.30368405A>G, NR_033412.1:n.1051A>G

Select item 149054685019.

rs1490546850 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:32014486 (GRCh38)
17:30341505 (GRCh37)
Canonical SPDI:: NC_000017.11:32014485:T:A
Gene:: LRRC37B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.32014486T>A, NC_000017.10:g.30341505T>A

Select item 149045633820.

rs1490456338 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:32030293 (GRCh38)
17:30357312 (GRCh37)
Canonical SPDI:: NC_000017.11:32030292:GG:G
Gene:: LRRC37B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.32030294del, NC_000017.10:g.30357313del

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