SNP Links for Gene (Select 166979) - SNP

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Select item 14915545861.

rs1491554586 has merged into rs56678420 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:55137189 (GRCh38)
5:54433017 (GRCh37)
Canonical SPDI:: NC_000005.10:55137176:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:55137176:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:55137176:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:55137176:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:55137176:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:55137176:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:55137176:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:55137176:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:55137176:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55137176:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CDC20B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000005.10:g.55137189_55137194del, NC_000005.10:g.55137190_55137194del, NC_000005.10:g.55137191_55137194del, NC_000005.10:g.55137192_55137194del, NC_000005.10:g.55137193_55137194del, NC_000005.10:g.55137194del, NC_000005.10:g.55137194dup, NC_000005.10:g.55137193_55137194dup, NC_000005.10:g.55137192_55137194dup, NC_000005.10:g.55137188_55137194dup, NC_000005.9:g.54433017_54433022del, NC_000005.9:g.54433018_54433022del, NC_000005.9:g.54433019_54433022del, NC_000005.9:g.54433020_54433022del, NC_000005.9:g.54433021_54433022del, NC_000005.9:g.54433022del, NC_000005.9:g.54433022dup, NC_000005.9:g.54433021_54433022dup, NC_000005.9:g.54433020_54433022dup, NC_000005.9:g.54433016_54433022dup

Select item 14915300262.

rs1491530026 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:55126466 (GRCh38)
5:54422294 (GRCh37)
Canonical SPDI:: NC_000005.10:55126465:CA:
Gene:: CDC20B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00556/66 (ALFA)
-=0.00162/44 (TOMMO)
HGVS:: NC_000005.10:g.55126466_55126467del, NC_000005.9:g.54422294_54422295del

Select item 14914357473.

rs1491435747 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 5:55126465 (GRCh38)
5:54422293 (GRCh37)
Canonical SPDI:: NC_000005.10:55126464:TC:
Gene:: CDC20B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.55126465_55126466del, NC_000005.9:g.54422293_54422294del

Select item 14914219214.

rs1491421921 has merged into rs34286995 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:55162100 (GRCh38)
5:54457928 (GRCh37)
Canonical SPDI:: NC_000005.10:55162090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:55162090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:55162090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:55162090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:55162090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:55162090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:55162090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:55162090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:55162090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:55162090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:55162090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:55162090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:55162090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55162090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55162090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55162090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55162090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55162090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55162090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55162090:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CDC20B (Varview), GPX8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.55162100_55162113del, NC_000005.10:g.55162101_55162113del, NC_000005.10:g.55162102_55162113del, NC_000005.10:g.55162103_55162113del, NC_000005.10:g.55162104_55162113del, NC_000005.10:g.55162105_55162113del, NC_000005.10:g.55162106_55162113del, NC_000005.10:g.55162107_55162113del, NC_000005.10:g.55162108_55162113del, NC_000005.10:g.55162109_55162113del, NC_000005.10:g.55162110_55162113del, NC_000005.10:g.55162111_55162113del, NC_000005.10:g.55162112_55162113del, NC_000005.10:g.55162113del, NC_000005.10:g.55162113dup, NC_000005.10:g.55162112_55162113dup, NC_000005.10:g.55162111_55162113dup, NC_000005.10:g.55162110_55162113dup, NC_000005.10:g.55162106_55162113dup, NC_000005.10:g.55162105_55162113dup, NC_000005.9:g.54457928_54457941del, NC_000005.9:g.54457929_54457941del, NC_000005.9:g.54457930_54457941del, NC_000005.9:g.54457931_54457941del, NC_000005.9:g.54457932_54457941del, NC_000005.9:g.54457933_54457941del, NC_000005.9:g.54457934_54457941del, NC_000005.9:g.54457935_54457941del, NC_000005.9:g.54457936_54457941del, NC_000005.9:g.54457937_54457941del, NC_000005.9:g.54457938_54457941del, NC_000005.9:g.54457939_54457941del, NC_000005.9:g.54457940_54457941del, NC_000005.9:g.54457941del, NC_000005.9:g.54457941dup, NC_000005.9:g.54457940_54457941dup, NC_000005.9:g.54457939_54457941dup, NC_000005.9:g.54457938_54457941dup, NC_000005.9:g.54457934_54457941dup, NC_000005.9:g.54457933_54457941dup

Select item 14914057715.

rs1491405771 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:55162090 (GRCh38)
5:54457918 (GRCh37)
Canonical SPDI:: NC_000005.10:55162089:CA:
Gene:: CDC20B (Varview), GPX8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00059/7 (ALFA)
-=0.00042/12 (TOMMO)
HGVS:: NC_000005.10:g.55162090_55162091del, NC_000005.9:g.54457918_54457919del

Select item 14913823456.

rs1491382345 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA,AAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:55126465 (GRCh38)
5:54422294 (GRCh37)
Canonical SPDI:: NC_000005.10:55126465::A,NC_000005.10:55126465::AA,NC_000005.10:55126465::AAA,NC_000005.10:55126465::AAAA,NC_000005.10:55126465::AAAAAAAAAAA,NC_000005.10:55126465::AAAAAAAAAAAA,NC_000005.10:55126465::AAAAAAAAAAAAA,NC_000005.10:55126465::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CDC20B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00004/1 (TOMMO)
AAAAAAAAAAAA=0.00065/1 (Korea1K)
HGVS:: NC_000005.10:g.55126465_55126466insA, NC_000005.10:g.55126465_55126466insAA, NC_000005.10:g.55126465_55126466insAAA, NC_000005.10:g.55126465_55126466insAAAA, NC_000005.10:g.55126465_55126466insAAAAAAAAAAA, NC_000005.10:g.55126465_55126466insAAAAAAAAAAAA, NC_000005.10:g.55126465_55126466insAAAAAAAAAAAAA, NC_000005.10:g.55126465_55126466insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.54422293_54422294insA, NC_000005.9:g.54422293_54422294insAA, NC_000005.9:g.54422293_54422294insAAA, NC_000005.9:g.54422293_54422294insAAAA, NC_000005.9:g.54422293_54422294insAAAAAAAAAAA, NC_000005.9:g.54422293_54422294insAAAAAAAAAAAA, NC_000005.9:g.54422293_54422294insAAAAAAAAAAAAA, NC_000005.9:g.54422293_54422294insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913499427.

rs1491349942 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:55153239 (GRCh38)
5:54449068 (GRCh37)
Canonical SPDI:: NC_000005.10:55153239:T:TT
Gene:: CDC20B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.00002/1 (GnomAD)
HGVS:: NC_000005.10:g.55153240dup, NC_000005.9:g.54449068dup

Select item 14913120718.

rs1491312071 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:55162089 (GRCh38)
5:54457918 (GRCh37)
Canonical SPDI:: NC_000005.10:55162089:C:CC
Gene:: CDC20B (Varview), GPX8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000005.10:g.55162090dup, NC_000005.9:g.54457918dup

Select item 14913031269.

rs1491303126 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 5:55162089 (GRCh38)
5:54457917 (GRCh37)
Canonical SPDI:: NC_000005.10:55162088:TC:
Gene:: CDC20B (Varview), GPX8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000005.10:g.55162089_55162090del, NC_000005.9:g.54457917_54457918del

Select item 149124333210.

rs1491243332 has merged into rs1045345429 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA [Show Flanks]
Chromosome:: 5:55150157 (GRCh38)
5:54445985 (GRCh37)
Canonical SPDI:: NC_000005.10:55150152:AAAAAA:AAAA,NC_000005.10:55150152:AAAAAA:AAAAAAA
Gene:: CDC20B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.00094/6 (1000Genomes)
HGVS:: NC_000005.10:g.55150157_55150158del, NC_000005.10:g.55150158dup, NC_000005.9:g.54445985_54445986del, NC_000005.9:g.54445986dup

Select item 149120884011.

rs1491208840 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:55153240 (GRCh38)
5:54449068 (GRCh37)
Canonical SPDI:: NC_000005.10:55153238:ATA:A
Gene:: CDC20B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00101/12 (ALFA)
HGVS:: NC_000005.10:g.55153240_55153241del, NC_000005.9:g.54449068_54449069del

Select item 149119606512.

rs1491196065 has merged into rs3068520 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:55144009 (GRCh38)
5:54439837 (GRCh37)
Canonical SPDI:: NC_000005.10:55143994:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:55143994:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:55143994:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:55143994:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:55143994:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:55143994:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:55143994:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CDC20B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.3626/1816 (1000Genomes)
HGVS:: NC_000005.10:g.55144009_55144011del, NC_000005.10:g.55144010_55144011del, NC_000005.10:g.55144011del, NC_000005.10:g.55144011dup, NC_000005.10:g.55144010_55144011dup, NC_000005.10:g.55144009_55144011dup, NC_000005.10:g.55144002_55144011dup, NC_000005.9:g.54439837_54439839del, NC_000005.9:g.54439838_54439839del, NC_000005.9:g.54439839del, NC_000005.9:g.54439839dup, NC_000005.9:g.54439838_54439839dup, NC_000005.9:g.54439837_54439839dup, NC_000005.9:g.54439830_54439839dup

Select item 149118490413.

rs1491184904 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:55143994 (GRCh38)
5:54439822 (GRCh37)
Canonical SPDI:: NC_000005.10:55143993:GA:
Gene:: CDC20B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00006/1 (ALFA)
HGVS:: NC_000005.10:g.55143994_55143995del, NC_000005.9:g.54439822_54439823del

Select item 149105799814.

rs1491057998 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:55153264 (GRCh38)
5:54449092 (GRCh37)
Canonical SPDI:: NC_000005.10:55153262:AGA:A
Gene:: CDC20B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
-=0.00021/6 (TOMMO)
HGVS:: NC_000005.10:g.55153264_55153265del, NC_000005.9:g.54449092_54449093del

Select item 149099027415.

rs1490990274 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:55139898 (GRCh38)
5:54435726 (GRCh37)
Canonical SPDI:: NC_000005.10:55139897:A:G
Gene:: CDC20B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.55139898A>G, NC_000005.9:g.54435726A>G

Select item 149095170416.

rs1490951704 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:55128425 (GRCh38)
5:54424253 (GRCh37)
Canonical SPDI:: NC_000005.10:55128424:A:T
Gene:: CDC20B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.55128425A>T, NC_000005.9:g.54424253A>T, NM_152623.2:c.890T>A, NM_001145734.2:c.890T>A, NM_001170402.1:c.890T>A, NP_689836.2:p.Val297Glu, NP_001139206.2:p.Val297Glu, NP_001163873.1:p.Val297Glu

Select item 149082137317.

rs1490821373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:55166039 (GRCh38)
5:54461867 (GRCh37)
Canonical SPDI:: NC_000005.10:55166038:G:A
Gene:: CDC20B (Varview), GPX8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000069/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.55166039G>A, NC_000005.9:g.54461867G>A, NM_001008397.4:c.*1821G>A, NM_001008397.3:c.*1821G>A, NM_001008397.2:c.*1821G>A, XM_006714631.3:c.*1821G>A, XM_006714631.2:c.*1821G>A, XM_006714631.1:c.*1821G>A, NR_131340.2:n.2463G>A, NR_131340.1:n.2516G>A, NR_131336.2:n.2387G>A, NR_131336.1:n.2440G>A, NR_131337.2:n.2329G>A, NR_131337.1:n.2382G>A, NM_001306197.2:c.*1821G>A, NM_001306197.1:c.*1821G>A, NM_001306198.2:c.*1916G>A, NM_001306198.1:c.*1916G>A, NM_001306201.2:c.*1821G>A, NM_001306201.1:c.*1821G>A, NR_131338.2:n.2125G>A, NR_131338.1:n.2178G>A

Select item 149079140218.

rs1490791402 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTTTT>- [Show Flanks]
Chromosome:: 5:55164800 (GRCh38)
5:54460628 (GRCh37)
Canonical SPDI:: NC_000005.10:55164794:TTTTTCTTTTT:TTTTT
Gene:: CDC20B (Varview), GPX8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.55164800_55164805del, NC_000005.9:g.54460628_54460633del, NM_001008397.4:c.*582_*587del, NM_001008397.3:c.*582_*587del, NM_001008397.2:c.*582_*587del, XM_006714631.3:c.*582_*587del, XM_006714631.2:c.*582_*587del, XM_006714631.1:c.*582_*587del, NR_131340.2:n.1224_1229del, NR_131340.1:n.1277_1282del, NR_131336.2:n.1148_1153del, NR_131336.1:n.1201_1206del, NR_131337.2:n.1090_1095del, NR_131337.1:n.1143_1148del, NM_001306197.2:c.*582_*587del, NM_001306197.1:c.*582_*587del, NM_001306198.2:c.*677_*682del, NM_001306198.1:c.*677_*682del, NM_001306201.2:c.*582_*587del, NM_001306201.1:c.*582_*587del, NR_131338.2:n.886_891del, NR_131338.1:n.939_944del

Select item 149076354919.

rs1490763549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:55123149 (GRCh38)
5:54418977 (GRCh37)
Canonical SPDI:: NC_000005.10:55123148:T:C
Gene:: CDC20B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.55123149T>C, NC_000005.9:g.54418977T>C

Select item 149060793520.

rs1490607935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:55174435 (GRCh38)
5:54470263 (GRCh37)
Canonical SPDI:: NC_000005.10:55174434:G:A,NC_000005.10:55174434:G:C
Gene:: CDC20B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.55174435G>A, NC_000005.10:g.55174435G>C, NC_000005.9:g.54470263G>A, NC_000005.9:g.54470263G>C

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