SNP Links for Gene (Select 283982) - SNP

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Select item 14914954871.

rs1491495487 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:73758741 (GRCh38)
17:71754881 (GRCh37)
Canonical SPDI:: NC_000017.11:73758741::G
Gene:: LINC00469 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00034/4 (ALFA)
G=0.00174/29 (TOMMO)
G=0.01132/588 (GnomAD)
HGVS:: NC_000017.11:g.73758741_73758742insG, NC_000017.10:g.71754880_71754881insG

Select item 14914751302.

rs1491475130 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 17:73798704 (GRCh38)
17:71794844 (GRCh37)
Canonical SPDI:: NC_000017.11:73798704:G:GAG
Gene:: LINC00469 (Varview), LINC02092 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0./0 (ALFA)
GA=0.00024/11 (GnomAD)
HGVS:: NC_000017.11:g.73798705_73798706insAG, NC_000017.10:g.71794844_71794845insAG

Select item 14914432643.

rs1491443264 has merged into rs1159814800 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAG>-,AG [Show Flanks]
Chromosome:: 17:73799116 (GRCh38)
17:71795255 (GRCh37)
Canonical SPDI:: NC_000017.11:73799108:GAGAGAGAGAG:GAGAGAG,NC_000017.11:73799108:GAGAGAGAGAG:GAGAGAGAG
Gene:: LINC00469 (Varview), LINC02092 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.73799110AG[3], NC_000017.11:g.73799110AG[4], NC_000017.10:g.71795249AG[3], NC_000017.10:g.71795249AG[4]

Select item 14914357534.

rs1491435753 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:73799109 (GRCh38)
17:71795249 (GRCh37)
Canonical SPDI:: NC_000017.11:73799109:A:AA
Gene:: LINC00469 (Varview), LINC02092 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.73799110dup, NC_000017.10:g.71795249dup

Select item 14913919295.

rs1491391929 has merged into rs71286198 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 17:73771261 (GRCh38)
17:71767400 (GRCh37)
Canonical SPDI:: NC_000017.11:73771250:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGT,NC_000017.11:73771250:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000017.11:73771250:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000017.11:73771250:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000017.11:73771250:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000017.11:73771250:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:73771250:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:73771250:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:73771250:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:73771250:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: LINC00469 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGT=0./0 (ALFA)
GT=0.001638/3 (Korea1K)
GT=0.001984/33 (TOMMO)
GTGTGT=0.028777/7617 (TOPMED)
GTGT=0.071885/360 (1000Genomes)
HGVS:: NC_000017.11:g.73771251GT[5], NC_000017.11:g.73771251GT[7], NC_000017.11:g.73771251GT[8], NC_000017.11:g.73771251GT[9], NC_000017.11:g.73771251GT[10], NC_000017.11:g.73771251GT[12], NC_000017.11:g.73771251GT[13], NC_000017.11:g.73771251GT[14], NC_000017.11:g.73771251GT[15], NC_000017.11:g.73771251GT[16], NC_000017.10:g.71767390GT[5], NC_000017.10:g.71767390GT[7], NC_000017.10:g.71767390GT[8], NC_000017.10:g.71767390GT[9], NC_000017.10:g.71767390GT[10], NC_000017.10:g.71767390GT[12], NC_000017.10:g.71767390GT[13], NC_000017.10:g.71767390GT[14], NC_000017.10:g.71767390GT[15], NC_000017.10:g.71767390GT[16]

Select item 14913693876.

rs1491369387 has merged into rs66843042 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:73796585 (GRCh38)
17:71792724 (GRCh37)
Canonical SPDI:: NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LINC00469 (Varview), LINC02092 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2161/1082 (1000Genomes)
HGVS:: NC_000017.11:g.73796585_73796589del, NC_000017.11:g.73796586_73796589del, NC_000017.11:g.73796587_73796589del, NC_000017.11:g.73796588_73796589del, NC_000017.11:g.73796589del, NC_000017.11:g.73796589dup, NC_000017.11:g.73796588_73796589dup, NC_000017.11:g.73796587_73796589dup, NC_000017.11:g.73796586_73796589dup, NC_000017.11:g.73796585_73796589dup, NC_000017.11:g.73796581_73796589dup, NC_000017.10:g.71792724_71792728del, NC_000017.10:g.71792725_71792728del, NC_000017.10:g.71792726_71792728del, NC_000017.10:g.71792727_71792728del, NC_000017.10:g.71792728del, NC_000017.10:g.71792728dup, NC_000017.10:g.71792727_71792728dup, NC_000017.10:g.71792726_71792728dup, NC_000017.10:g.71792725_71792728dup, NC_000017.10:g.71792724_71792728dup, NC_000017.10:g.71792720_71792728dup

Select item 14912963307.

rs1491296330 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C,T,TC [Show Flanks]
Chromosome:: 17:73798708 (GRCh38)
17:71794848 (GRCh37)
Canonical SPDI:: NC_000017.11:73798708::A,NC_000017.11:73798708::C,NC_000017.11:73798708::T,NC_000017.11:73798708::TC
Gene:: LINC00469 (Varview), LINC02092 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.00004/1 (TOMMO)
T=0.00055/1 (Korea1K)
HGVS:: NC_000017.11:g.73798708_73798709insA, NC_000017.11:g.73798708_73798709insC, NC_000017.11:g.73798708_73798709insT, NC_000017.11:g.73798708_73798709insTC, NC_000017.10:g.71794847_71794848insA, NC_000017.10:g.71794847_71794848insC, NC_000017.10:g.71794847_71794848insT, NC_000017.10:g.71794847_71794848insTC

Select item 14912762688.

rs1491276268 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA,CAAA,CAAAA,CAAAAA,CAAAAAA [Show Flanks]
Chromosome:: 17:73754591 (GRCh38)
17:71750731 (GRCh37)
Canonical SPDI:: NC_000017.11:73754591::CA,NC_000017.11:73754591::CAAA,NC_000017.11:73754591::CAAAA,NC_000017.11:73754591::CAAAAA,NC_000017.11:73754591::CAAAAAA
Gene:: LINC00469 (Varview), LOC100134391 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.73754591_73754592insCA, NC_000017.11:g.73754591_73754592insCAAA, NC_000017.11:g.73754591_73754592insCAAAA, NC_000017.11:g.73754591_73754592insCAAAAA, NC_000017.11:g.73754591_73754592insCAAAAAA, NC_000017.10:g.71750730_71750731insCA, NC_000017.10:g.71750730_71750731insCAAA, NC_000017.10:g.71750730_71750731insCAAAA, NC_000017.10:g.71750730_71750731insCAAAAA, NC_000017.10:g.71750730_71750731insCAAAAAA

Select item 14912274929.

rs1491227492 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:73796570 (GRCh38)
17:71792709 (GRCh37)
Canonical SPDI:: NC_000017.11:73796569:CA:
Gene:: LINC00469 (Varview), LINC02092 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.73796570_73796571del, NC_000017.10:g.71792709_71792710del

Select item 149122379410.

rs1491223794 has merged into rs34596992 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGG>-,G,GG,GGG,GGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG [Show Flanks]
Chromosome:: 17:73798712 (GRCh38)
17:71794851 (GRCh37)
Canonical SPDI:: NC_000017.11:73798703:GGGGGGGGGGGGG:GGGGGGGG,NC_000017.11:73798703:GGGGGGGGGGGGG:GGGGGGGGG,NC_000017.11:73798703:GGGGGGGGGGGGG:GGGGGGGGGG,NC_000017.11:73798703:GGGGGGGGGGGGG:GGGGGGGGGGG,NC_000017.11:73798703:GGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000017.11:73798703:GGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000017.11:73798703:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000017.11:73798703:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000017.11:73798703:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000017.11:73798703:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG
Gene:: LINC00469 (Varview), LINC02092 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
-=0.0495/248 (1000Genomes)
-=0.083/320 (ALSPAC)
HGVS:: NC_000017.11:g.73798712_73798716del, NC_000017.11:g.73798713_73798716del, NC_000017.11:g.73798714_73798716del, NC_000017.11:g.73798715_73798716del, NC_000017.11:g.73798716del, NC_000017.11:g.73798716dup, NC_000017.11:g.73798715_73798716dup, NC_000017.11:g.73798714_73798716dup, NC_000017.11:g.73798713_73798716dup, NC_000017.11:g.73798712_73798716dup, NC_000017.10:g.71794851_71794855del, NC_000017.10:g.71794852_71794855del, NC_000017.10:g.71794853_71794855del, NC_000017.10:g.71794854_71794855del, NC_000017.10:g.71794855del, NC_000017.10:g.71794855dup, NC_000017.10:g.71794854_71794855dup, NC_000017.10:g.71794853_71794855dup, NC_000017.10:g.71794852_71794855dup, NC_000017.10:g.71794851_71794855dup

Select item 149117401711.

rs1491174017 has merged into rs200266461 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 17:73758748 (GRCh38)
17:71754887 (GRCh37)
Canonical SPDI:: NC_000017.11:73758740:AAAAAAAAAAA:AAAAAAA,NC_000017.11:73758740:AAAAAAAAAAA:AAAAAAAAA,NC_000017.11:73758740:AAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:73758740:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:73758740:AAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: LINC00469 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.3285/1645 (1000Genomes)
-=0.4078/407 (GoNL)
HGVS:: NC_000017.11:g.73758748_73758751del, NC_000017.11:g.73758750_73758751del, NC_000017.11:g.73758751del, NC_000017.11:g.73758751dup, NC_000017.11:g.73758750_73758751dup, NC_000017.10:g.71754887_71754890del, NC_000017.10:g.71754889_71754890del, NC_000017.10:g.71754890del, NC_000017.10:g.71754890dup, NC_000017.10:g.71754889_71754890dup

Select item 149111755012.

rs1491117550 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:73754591 (GRCh38)
17:71750730 (GRCh37)
Canonical SPDI:: NC_000017.11:73754590:CA:
Gene:: LINC00469 (Varview), LOC100134391 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.73754591_73754592del, NC_000017.10:g.71750730_71750731del

Select item 149108306113.

rs1491083061 has merged into rs66843042 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:73796585 (GRCh38)
17:71792724 (GRCh37)
Canonical SPDI:: NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:73796570:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LINC00469 (Varview), LINC02092 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2161/1082 (1000Genomes)
HGVS:: NC_000017.11:g.73796585_73796589del, NC_000017.11:g.73796586_73796589del, NC_000017.11:g.73796587_73796589del, NC_000017.11:g.73796588_73796589del, NC_000017.11:g.73796589del, NC_000017.11:g.73796589dup, NC_000017.11:g.73796588_73796589dup, NC_000017.11:g.73796587_73796589dup, NC_000017.11:g.73796586_73796589dup, NC_000017.11:g.73796585_73796589dup, NC_000017.11:g.73796581_73796589dup, NC_000017.10:g.71792724_71792728del, NC_000017.10:g.71792725_71792728del, NC_000017.10:g.71792726_71792728del, NC_000017.10:g.71792727_71792728del, NC_000017.10:g.71792728del, NC_000017.10:g.71792728dup, NC_000017.10:g.71792727_71792728dup, NC_000017.10:g.71792726_71792728dup, NC_000017.10:g.71792725_71792728dup, NC_000017.10:g.71792724_71792728dup, NC_000017.10:g.71792720_71792728dup

Select item 149108084614.

rs1491080846 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:73749448 (GRCh38)
17:71745587 (GRCh37)
Canonical SPDI:: NC_000017.11:73749447:AT:
Gene:: LINC00469 (Varview), LOC100134391 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.73749448_73749449del, NC_000017.10:g.71745587_71745588del, NM_182564.1:c.*977_*978del, NR_027146.1:n.1370_1371del

Select item 149105978915.

rs1491059789 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:73749489 (GRCh38)
17:71745628 (GRCh37)
Canonical SPDI:: NC_000017.11:73749488:AT:
Gene:: LINC00469 (Varview), LOC100134391 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000022/3 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.73749489_73749490del, NC_000017.10:g.71745628_71745629del, NM_182564.1:c.*934AT[1], NR_027146.1:n.1329_1330del

Select item 149104718616.

rs1491047186 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:73799961 (GRCh38)
17:71796100 (GRCh37)
Canonical SPDI:: NC_000017.11:73799959:ATA:A
Gene:: LINC00469 (Varview), LINC02092 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.007081/84 (ALFA)
-=0.006745/701 (GnomAD)
HGVS:: NC_000017.11:g.73799961_73799962del, NC_000017.10:g.71796100_71796101del

Select item 149099967117.

rs1490999671 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:73754007 (GRCh38)
17:71750146 (GRCh37)
Canonical SPDI:: NC_000017.11:73754006:T:C
Gene:: LINC00469 (Varview), LOC100134391 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.73754007T>C, NC_000017.10:g.71750146T>C

Select item 149094967318.

rs1490949673 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:73801766 (GRCh38)
17:71797905 (GRCh37)
Canonical SPDI:: NC_000017.11:73801765:A:G
Gene:: LINC00469 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000049/13 (TOPMED)
G=0.000057/8 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.73801766A>G, NC_000017.10:g.71797905A>G

Select item 149084772319.

rs1490847723 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:73780728 (GRCh38)
17:71776867 (GRCh37)
Canonical SPDI:: NC_000017.11:73780727:T:A
Gene:: LINC00469 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.73780728T>A, NC_000017.10:g.71776867T>A

Select item 149080854520.

rs1490808545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:73751917 (GRCh38)
17:71748056 (GRCh37)
Canonical SPDI:: NC_000017.11:73751916:G:A,NC_000017.11:73751916:G:C
Gene:: LINC00469 (Varview), LOC100134391 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.73751917G>A, NC_000017.11:g.73751917G>C, NC_000017.10:g.71748056G>A, NC_000017.10:g.71748056G>C

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