SNP Links for Gene (Select 84923) - SNP

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Select item 14915838011.

rs1491583801 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 17:73231844 (GRCh38)
17:71227983 (GRCh37)
Canonical SPDI:: NC_000017.11:73231843:GGGGGG:GGGGG,NC_000017.11:73231843:GGGGGG:GGGGGGG
Gene:: C17orf80 (Varview), FAM104A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.73231849del, NC_000017.11:g.73231849dup, NC_000017.10:g.71227988del, NC_000017.10:g.71227988dup, NG_054938.1:g.4760del, NG_054938.1:g.4760dup

Select item 14915377242.

rs1491537724 [Homo sapiens]

Variant type:: INS
Alleles:: ->CACA [Show Flanks]
Chromosome:: 17:73224994 (GRCh38)
17:71221134 (GRCh37)
Canonical SPDI:: NC_000017.11:73224994::CACA
Gene:: FAM104A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0.061969/277 (ALFA)
CACA=0.050915/6911 (GnomAD)
HGVS:: NC_000017.11:g.73224994_73224995insCACA, NC_000017.10:g.71221133_71221134insCACA

Select item 14915225113.

rs1491522511 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGGC [Show Flanks]
Chromosome:: 17:73220510 (GRCh38)
17:71216650 (GRCh37)
Canonical SPDI:: NC_000017.11:73220510:C:CATGGC
Gene:: FAM104A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: CATGG=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.73220511_73220512insATGGC, NC_000017.10:g.71216650_71216651insATGGC

Select item 14915158584.

rs1491515858 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:73225861 (GRCh38)
17:71222000 (GRCh37)
Canonical SPDI:: NC_000017.11:73225860:GA:
Gene:: FAM104A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.73225861_73225862del, NC_000017.10:g.71222000_71222001del

Select item 14915109245.

rs1491510924 has merged into rs11454294 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:73222046 (GRCh38)
17:71218185 (GRCh37)
Canonical SPDI:: NC_000017.11:73222035:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:73222035:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:73222035:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:73222035:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:73222035:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:73222035:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:73222035:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:73222035:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73222035:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73222035:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73222035:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73222035:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73222035:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73222035:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73222035:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73222035:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FAM104A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.0069/34 (1000Genomes)
HGVS:: NC_000017.11:g.73222046_73222057del, NC_000017.11:g.73222048_73222057del, NC_000017.11:g.73222049_73222057del, NC_000017.11:g.73222052_73222057del, NC_000017.11:g.73222053_73222057del, NC_000017.11:g.73222055_73222057del, NC_000017.11:g.73222056_73222057del, NC_000017.11:g.73222057del, NC_000017.11:g.73222057dup, NC_000017.11:g.73222056_73222057dup, NC_000017.11:g.73222055_73222057dup, NC_000017.11:g.73222054_73222057dup, NC_000017.11:g.73222053_73222057dup, NC_000017.11:g.73222052_73222057dup, NC_000017.11:g.73222051_73222057dup, NC_000017.11:g.73222057_73222058insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.71218185_71218196del, NC_000017.10:g.71218187_71218196del, NC_000017.10:g.71218188_71218196del, NC_000017.10:g.71218191_71218196del, NC_000017.10:g.71218192_71218196del, NC_000017.10:g.71218194_71218196del, NC_000017.10:g.71218195_71218196del, NC_000017.10:g.71218196del, NC_000017.10:g.71218196dup, NC_000017.10:g.71218195_71218196dup, NC_000017.10:g.71218194_71218196dup, NC_000017.10:g.71218193_71218196dup, NC_000017.10:g.71218192_71218196dup, NC_000017.10:g.71218191_71218196dup, NC_000017.10:g.71218190_71218196dup, NC_000017.10:g.71218196_71218197insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914117256.

rs1491411725 [Homo sapiens]

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

Select item 14913545507.

rs1491354550 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:73222035 (GRCh38)
17:71218174 (GRCh37)
Canonical SPDI:: NC_000017.11:73222034:CA:
Gene:: FAM104A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000017.11:g.73222035_73222036del, NC_000017.10:g.71218174_71218175del

Select item 14913173558.

rs1491317355 has merged into rs869044764 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:73225907 (GRCh38)
17:71222046 (GRCh37)
Canonical SPDI:: NC_000017.11:73225899:TTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000017.11:73225899:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:73225899:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:73225899:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:73225899:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:73225899:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:73225899:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:73225899:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:73225899:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:73225899:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:73225899:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:73225899:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:73225899:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:73225899:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:73225899:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:73225899:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:73225899:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:73225899:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FAM104A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.73225907_73225917del, NC_000017.11:g.73225909_73225917del, NC_000017.11:g.73225910_73225917del, NC_000017.11:g.73225911_73225917del, NC_000017.11:g.73225912_73225917del, NC_000017.11:g.73225913_73225917del, NC_000017.11:g.73225914_73225917del, NC_000017.11:g.73225915_73225917del, NC_000017.11:g.73225916_73225917del, NC_000017.11:g.73225917del, NC_000017.11:g.73225917dup, NC_000017.11:g.73225916_73225917dup, NC_000017.11:g.73225915_73225917dup, NC_000017.11:g.73225914_73225917dup, NC_000017.11:g.73225913_73225917dup, NC_000017.11:g.73225912_73225917dup, NC_000017.11:g.73225911_73225917dup, NC_000017.11:g.73225910_73225917dup, NC_000017.10:g.71222046_71222056del, NC_000017.10:g.71222048_71222056del, NC_000017.10:g.71222049_71222056del, NC_000017.10:g.71222050_71222056del, NC_000017.10:g.71222051_71222056del, NC_000017.10:g.71222052_71222056del, NC_000017.10:g.71222053_71222056del, NC_000017.10:g.71222054_71222056del, NC_000017.10:g.71222055_71222056del, NC_000017.10:g.71222056del, NC_000017.10:g.71222056dup, NC_000017.10:g.71222055_71222056dup, NC_000017.10:g.71222054_71222056dup, NC_000017.10:g.71222053_71222056dup, NC_000017.10:g.71222052_71222056dup, NC_000017.10:g.71222051_71222056dup, NC_000017.10:g.71222050_71222056dup, NC_000017.10:g.71222049_71222056dup

Select item 14912980339.

rs1491298033 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 17:73224994 (GRCh38)
17:71221133 (GRCh37)
Canonical SPDI:: NC_000017.11:73224993:GG:
Gene:: FAM104A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00014/4 (TOMMO)
HGVS:: NC_000017.11:g.73224994_73224995del, NC_000017.10:g.71221133_71221134del

Select item 149128153810.

rs1491281538 has merged into rs1199167715 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 17:73225866 (GRCh38)
17:71222005 (GRCh37)
Canonical SPDI:: NC_000017.11:73225861:AAAAAAA:AAAA,NC_000017.11:73225861:AAAAAAA:AAAAA,NC_000017.11:73225861:AAAAAAA:AAAAAA,NC_000017.11:73225861:AAAAAAA:AAAAAAAA,NC_000017.11:73225861:AAAAAAA:AAAAAAAAA,NC_000017.11:73225861:AAAAAAA:AAAAAAAAAA,NC_000017.11:73225861:AAAAAAA:AAAAAAAAAAA,NC_000017.11:73225861:AAAAAAA:AAAAAAAAAAAAA
Gene:: FAM104A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.73225866_73225868del, NC_000017.11:g.73225867_73225868del, NC_000017.11:g.73225868del, NC_000017.11:g.73225868dup, NC_000017.11:g.73225867_73225868dup, NC_000017.11:g.73225866_73225868dup, NC_000017.11:g.73225865_73225868dup, NC_000017.11:g.73225863_73225868dup, NC_000017.10:g.71222005_71222007del, NC_000017.10:g.71222006_71222007del, NC_000017.10:g.71222007del, NC_000017.10:g.71222007dup, NC_000017.10:g.71222006_71222007dup, NC_000017.10:g.71222005_71222007dup, NC_000017.10:g.71222004_71222007dup, NC_000017.10:g.71222002_71222007dup

Select item 149127259611.

rs1491272596 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:73207114 (GRCh38)
17:71203253 (GRCh37)
Canonical SPDI:: NC_000017.11:73207113:AT:
Gene:: COG1 (Varview), FAM104A (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.73207114_73207115del, NC_000017.10:g.71203253_71203254del, NG_008971.1:g.19081_19082del

Select item 149121948512.

rs1491219485 has merged into rs869239366 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:73222791 (GRCh38)
17:71218931 (GRCh37)
Canonical SPDI:: NC_000017.11:73222791:G:GG
Gene:: FAM104A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.00006/2 (GnomAD)
HGVS:: NC_000017.11:g.73222792dup, NC_000017.10:g.71218931dup

Select item 149121708713.

rs1491217087 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAAAAAAAAAAAAAT,AAAAAAAAAAAAAAAT,AAAAAAAAAAAT,AAAAAAAAAT,AAAAAAAAT,AAT [Show Flanks]
Chromosome:: 17:73207114 (GRCh38)
17:71203254 (GRCh37)
Canonical SPDI:: NC_000017.11:73207114::AAAAAAAAAAAAAAAAT,NC_000017.11:73207114::AAAAAAAAAAAAAAAT,NC_000017.11:73207114::AAAAAAAAAAAT,NC_000017.11:73207114::AAAAAAAAAT,NC_000017.11:73207114::AAAAAAAAT,NC_000017.11:73207114::AAT
Gene:: COG1 (Varview), FAM104A (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000017.11:g.73207114_73207115insAAAAAAAAAAAAAAAAT, NC_000017.11:g.73207114_73207115insAAAAAAAAAAAAAAAT, NC_000017.11:g.73207114_73207115insAAAAAAAAAAAT, NC_000017.11:g.73207114_73207115insAAAAAAAAAT, NC_000017.11:g.73207114_73207115insAAAAAAAAT, NC_000017.11:g.73207114_73207115insAAT, NC_000017.10:g.71203253_71203254insAAAAAAAAAAAAAAAAT, NC_000017.10:g.71203253_71203254insAAAAAAAAAAAAAAAT, NC_000017.10:g.71203253_71203254insAAAAAAAAAAAT, NC_000017.10:g.71203253_71203254insAAAAAAAAAT, NC_000017.10:g.71203253_71203254insAAAAAAAAT, NC_000017.10:g.71203253_71203254insAAT, NG_008971.1:g.19081_19082insAAAAAAAAAAAAAAAAT, NG_008971.1:g.19081_19082insAAAAAAAAAAAAAAAT, NG_008971.1:g.19081_19082insAAAAAAAAAAAT, NG_008971.1:g.19081_19082insAAAAAAAAAT, NG_008971.1:g.19081_19082insAAAAAAAAT, NG_008971.1:g.19081_19082insAAT

Select item 149118275914.

rs1491182759 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 17:73224974 (GRCh38)
17:71221113 (GRCh37)
Canonical SPDI:: NC_000017.11:73224973:GC:
Gene:: FAM104A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00037/6 (ALFA)
HGVS:: NC_000017.11:g.73224974_73224975del, NC_000017.10:g.71221113_71221114del

Select item 149118070115.

rs1491180701 [Homo sapiens]

Variant type:: INS
Alleles:: ->GA [Show Flanks]
Chromosome:: 17:73224974 (GRCh38)
17:71221114 (GRCh37)
Canonical SPDI:: NC_000017.11:73224974::GA
Gene:: FAM104A (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.73224974_73224975insGA, NC_000017.10:g.71221113_71221114insGA

Select item 149117741416.

rs1491177414 has merged into rs1222794052 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:73219200 (GRCh38)
17:71215339 (GRCh37)
Canonical SPDI:: NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73219191:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FAM104A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.73219200_73219213del, NC_000017.11:g.73219203_73219213del, NC_000017.11:g.73219205_73219213del, NC_000017.11:g.73219207_73219213del, NC_000017.11:g.73219208_73219213del, NC_000017.11:g.73219209_73219213del, NC_000017.11:g.73219210_73219213del, NC_000017.11:g.73219211_73219213del, NC_000017.11:g.73219212_73219213del, NC_000017.11:g.73219213del, NC_000017.11:g.73219213dup, NC_000017.11:g.73219212_73219213dup, NC_000017.11:g.73219211_73219213dup, NC_000017.11:g.73219210_73219213dup, NC_000017.11:g.73219209_73219213dup, NC_000017.11:g.73219208_73219213dup, NC_000017.11:g.73219192_73219213dup, NC_000017.11:g.73219213_73219214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.71215339_71215352del, NC_000017.10:g.71215342_71215352del, NC_000017.10:g.71215344_71215352del, NC_000017.10:g.71215346_71215352del, NC_000017.10:g.71215347_71215352del, NC_000017.10:g.71215348_71215352del, NC_000017.10:g.71215349_71215352del, NC_000017.10:g.71215350_71215352del, NC_000017.10:g.71215351_71215352del, NC_000017.10:g.71215352del, NC_000017.10:g.71215352dup, NC_000017.10:g.71215351_71215352dup, NC_000017.10:g.71215350_71215352dup, NC_000017.10:g.71215349_71215352dup, NC_000017.10:g.71215348_71215352dup, NC_000017.10:g.71215347_71215352dup, NC_000017.10:g.71215331_71215352dup, NC_000017.10:g.71215352_71215353insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149099624617.

rs1490996246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:73211966 (GRCh38)
17:71208105 (GRCh37)
Canonical SPDI:: NC_000017.11:73211965:G:A,NC_000017.11:73211965:G:T
Gene:: FAM104A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.73211966G>A, NC_000017.11:g.73211966G>T, NC_000017.10:g.71208105G>A, NC_000017.10:g.71208105G>T

Select item 149095350718.

rs1490953507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:73224835 (GRCh38)
17:71220974 (GRCh37)
Canonical SPDI:: NC_000017.11:73224834:C:G
Gene:: FAM104A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.003878/46 (ALFA)
G=0.000033/4 (GnomAD)
G=0.078371/229 (KOREAN)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000017.11:g.73224835C>G, NC_000017.10:g.71220974C>G

Select item 149083523219.

rs1490835232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:73213084 (GRCh38)
17:71209223 (GRCh37)
Canonical SPDI:: NC_000017.11:73213083:A:C
Gene:: FAM104A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.73213084A>C, NC_000017.10:g.71209223A>C

Select item 149080428320.

rs1490804283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:73224850 (GRCh38)
17:71220989 (GRCh37)
Canonical SPDI:: NC_000017.11:73224849:G:A,NC_000017.11:73224849:G:C
Gene:: FAM104A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00014/4 (TOMMO)
HGVS:: NC_000017.11:g.73224850G>A, NC_000017.11:g.73224850G>C, NC_000017.10:g.71220989G>A, NC_000017.10:g.71220989G>C

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