SNP Links for Gene (Select 387836) - SNP

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Select item 14915648671.

rs1491564867 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:9892904 (GRCh38)
12:10045504 (GRCh37)
Canonical SPDI:: NC_000012.12:9892904::C
Gene:: CLEC2A (Varview), KLRF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000059/1 (GnomAD)
HGVS:: NC_000012.12:g.9892904_9892905insC, NC_000012.11:g.10045503_10045504insC

Select item 14915579422.

rs1491557942 has merged into rs59382110 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAATAAGAATAATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAATTAAGAAAAGTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:9888063 (GRCh38)
12:10040662 (GRCh37)
Canonical SPDI:: NC_000012.12:9888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:9888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:9888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:9888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:9888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:9888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:9888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:9888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAATAAGAATAATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:9888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAATTAAGAAAAGTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CLEC2A (Varview), KLRF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.9888063_9888074del, NC_000012.12:g.9888069_9888074del, NC_000012.12:g.9888070_9888074del, NC_000012.12:g.9888071_9888074del, NC_000012.12:g.9888072_9888074del, NC_000012.12:g.9888073_9888074del, NC_000012.12:g.9888074del, NC_000012.12:g.9888074dup, NC_000012.12:g.9888073_9888074dup, NC_000012.12:g.9888072_9888074dup, NC_000012.12:g.9888071_9888074dup, NC_000012.12:g.9888070_9888074dup, NC_000012.12:g.9888069_9888074dup, NC_000012.12:g.9888065_9888074dup, NC_000012.12:g.9888055_9888074A[23]TAAGAATAATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000012.12:g.9888055_9888074A[20]TTAAGAAAAGTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000012.11:g.10040662_10040673del, NC_000012.11:g.10040668_10040673del, NC_000012.11:g.10040669_10040673del, NC_000012.11:g.10040670_10040673del, NC_000012.11:g.10040671_10040673del, NC_000012.11:g.10040672_10040673del, NC_000012.11:g.10040673del, NC_000012.11:g.10040673dup, NC_000012.11:g.10040672_10040673dup, NC_000012.11:g.10040671_10040673dup, NC_000012.11:g.10040670_10040673dup, NC_000012.11:g.10040669_10040673dup, NC_000012.11:g.10040668_10040673dup, NC_000012.11:g.10040664_10040673dup, NC_000012.11:g.10040654_10040673A[23]TAAGAATAATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000012.11:g.10040654_10040673A[20]TTAAGAAAAGTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14913974613.

rs1491397461 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:9886763 (GRCh38)
12:10039362 (GRCh37)
Canonical SPDI:: NC_000012.12:9886762:CA:
Gene:: CLEC2A (Varview), KLRF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000012.12:g.9886763_9886764del, NC_000012.11:g.10039362_10039363del

Select item 14913833974.

rs1491383397 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 12:9917163 (GRCh38)
12:10069762 (GRCh37)
Canonical SPDI:: NC_000012.12:9917161:CAC:C
Gene:: CLEC2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
-=0.000114/16 (GnomAD)
-=0.000147/39 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.9917163_9917164del, NC_000012.11:g.10069762_10069763del

Select item 14913215065.

rs1491321506 has merged into rs3053814 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 12:9912676 (GRCh38)
12:10065275 (GRCh37)
Canonical SPDI:: NC_000012.12:9912665:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:9912665:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:9912665:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:9912665:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:9912665:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:9912665:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:9912665:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:9912665:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: CLEC2A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.9912676_9912679del, NC_000012.12:g.9912677_9912679del, NC_000012.12:g.9912678_9912679del, NC_000012.12:g.9912679del, NC_000012.12:g.9912679dup, NC_000012.12:g.9912678_9912679dup, NC_000012.12:g.9912677_9912679dup, NC_000012.12:g.9912676_9912679dup, NC_000012.11:g.10065275_10065278del, NC_000012.11:g.10065276_10065278del, NC_000012.11:g.10065277_10065278del, NC_000012.11:g.10065278del, NC_000012.11:g.10065278dup, NC_000012.11:g.10065277_10065278dup, NC_000012.11:g.10065276_10065278dup, NC_000012.11:g.10065275_10065278dup

Select item 14912896506.

rs1491289650 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 12:9885349 (GRCh38)
12:10037949 (GRCh37)
Canonical SPDI:: NC_000012.12:9885349:T:TCT
Gene:: CLEC2A (Varview), KLRF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
TC=0.000008/1 (GnomAD)
TC=0.000034/9 (TOPMED)
HGVS:: NC_000012.12:g.9885350_9885351insCT, NC_000012.11:g.10037949_10037950insCT

Select item 14912407527.

rs1491240752 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:9928502 (GRCh38)
12:10081101 (GRCh37)
Canonical SPDI:: NC_000012.12:9928500:AAA:A
Gene:: CLEC2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.9928502_9928503del, NC_000012.11:g.10081101_10081102del

Select item 14912014828.

rs1491201482 has merged into rs141327204 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTCTCTCTCTCTCTC>-,TC,TCTC,TCTCTC,TCTCTCTC,TCTCTCTCTC,TCTCTCTCTCTC,TCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC [Show Flanks]
Chromosome:: 12:9894139 (GRCh38)
12:10046738 (GRCh37)
Canonical SPDI:: NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000012.12:9894126:TCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC
Gene:: CLEC2A (Varview), KLRF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.9894127TC[6], NC_000012.12:g.9894127TC[7], NC_000012.12:g.9894127TC[8], NC_000012.12:g.9894127TC[9], NC_000012.12:g.9894127TC[10], NC_000012.12:g.9894127TC[11], NC_000012.12:g.9894127TC[12], NC_000012.12:g.9894127TC[13], NC_000012.12:g.9894127TC[15], NC_000012.12:g.9894127TC[16], NC_000012.12:g.9894127TC[17], NC_000012.12:g.9894127TC[18], NC_000012.12:g.9894127TC[19], NC_000012.12:g.9894127TC[20], NC_000012.12:g.9894127TC[21], NC_000012.12:g.9894127TC[22], NC_000012.12:g.9894127TC[23], NC_000012.12:g.9894127TC[24], NC_000012.12:g.9894127TC[25], NC_000012.12:g.9894127TC[26], NC_000012.12:g.9894127TC[27], NC_000012.12:g.9894127TC[28], NC_000012.12:g.9894127TC[30], NC_000012.11:g.10046726TC[6], NC_000012.11:g.10046726TC[7], NC_000012.11:g.10046726TC[8], NC_000012.11:g.10046726TC[9], NC_000012.11:g.10046726TC[10], NC_000012.11:g.10046726TC[11], NC_000012.11:g.10046726TC[12], NC_000012.11:g.10046726TC[13], NC_000012.11:g.10046726TC[15], NC_000012.11:g.10046726TC[16], NC_000012.11:g.10046726TC[17], NC_000012.11:g.10046726TC[18], NC_000012.11:g.10046726TC[19], NC_000012.11:g.10046726TC[20], NC_000012.11:g.10046726TC[21], NC_000012.11:g.10046726TC[22], NC_000012.11:g.10046726TC[23], NC_000012.11:g.10046726TC[24], NC_000012.11:g.10046726TC[25], NC_000012.11:g.10046726TC[26], NC_000012.11:g.10046726TC[27], NC_000012.11:g.10046726TC[28], NC_000012.11:g.10046726TC[30]

Select item 14911449099.

rs1491144909 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 12:9934224 (GRCh38)
12:10086823 (GRCh37)
Canonical SPDI:: NC_000012.12:9934223:AG:
Gene:: CLEC2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.9934224_9934225del, NC_000012.11:g.10086823_10086824del

Select item 149113311110.

rs1491133111 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAA [Show Flanks]
Chromosome:: 12:9928501 (GRCh38)
12:10081101 (GRCh37)
Canonical SPDI:: NC_000012.12:9928501:AAGAA:AAGAAGAA
Gene:: CLEC2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAGAAGAA=0./0 (ALFA)
AAG=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.9928504_9928506dup, NC_000012.11:g.10081103_10081105dup

Select item 149111229111.

rs1491112291 has merged into rs35351866 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAAA [Show Flanks]
Chromosome:: 12:9892915 (GRCh38)
12:10045514 (GRCh37)
Canonical SPDI:: NC_000012.12:9892903:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:9892903:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:9892903:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:9892903:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:9892903:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:9892903:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: CLEC2A (Varview), KLRF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.4854/2431 (1000Genomes)
HGVS:: NC_000012.12:g.9892915_9892916del, NC_000012.12:g.9892916del, NC_000012.12:g.9892916dup, NC_000012.12:g.9892915_9892916dup, NC_000012.12:g.9892914_9892916dup, NC_000012.12:g.9892912_9892916dup, NC_000012.11:g.10045514_10045515del, NC_000012.11:g.10045515del, NC_000012.11:g.10045515dup, NC_000012.11:g.10045514_10045515dup, NC_000012.11:g.10045513_10045515dup, NC_000012.11:g.10045511_10045515dup

Select item 149104968512.

rs1491049685 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:9894125 (GRCh38)
12:10046725 (GRCh37)
Canonical SPDI:: NC_000012.12:9894125::C
Gene:: CLEC2A (Varview), KLRF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.00065/64 (GnomAD)
C=0.00265/17 (1000Genomes)
C=0.00629/104 (TOMMO)
HGVS:: NC_000012.12:g.9894125_9894126insC, NC_000012.11:g.10046724_10046725insC

Select item 149102405113.

rs1491024051 has merged into rs1208094836 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA [Show Flanks]
Chromosome:: 12:9886785 (GRCh38)
12:10039384 (GRCh37)
Canonical SPDI:: NC_000012.12:9886781:AGAGAGA:AGA,NC_000012.12:9886781:AGAGAGA:AGAGA,NC_000012.12:9886781:AGAGAGA:AGAGAGAGA
Gene:: CLEC2A (Varview), KLRF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGA=0./0 (ALFA)
AG=0.00089/15 (TOMMO)
AG=0.00109/2 (Korea1K)
HGVS:: NC_000012.12:g.9886783GA[1], NC_000012.12:g.9886783GA[2], NC_000012.12:g.9886783GA[4], NC_000012.11:g.10039382GA[1], NC_000012.11:g.10039382GA[2], NC_000012.11:g.10039382GA[4]

Select item 149099751514.

rs1490997515 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 12:9904853 (GRCh38)
12:10057452 (GRCh37)
Canonical SPDI:: NC_000012.12:9904852:GGGGG:GGGG
Gene:: CLEC2A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.9904857del, NC_000012.11:g.10057456del

Select item 149093929415.

rs1490939294 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTGCG>- [Show Flanks]
Chromosome:: 12:9919597 (GRCh38)
12:10072196 (GRCh37)
Canonical SPDI:: NC_000012.12:9919593:GCGCTTGCG:GCG
Gene:: CLEC2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GCG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.9919597_9919602del, NC_000012.11:g.10072196_10072201del

Select item 149081223716.

rs1490812237 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:9927009 (GRCh38)
12:10079608 (GRCh37)
Canonical SPDI:: NC_000012.12:9927008:T:C
Gene:: CLEC2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.9927009T>C, NC_000012.11:g.10079608T>C

Select item 149079539717.

rs1490795397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:9927909 (GRCh38)
12:10080508 (GRCh37)
Canonical SPDI:: NC_000012.12:9927908:C:G
Gene:: CLEC2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.9927909C>G, NC_000012.11:g.10080508C>G

Select item 149072424018.

rs1490724240 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:9890076 (GRCh38)
12:10042675 (GRCh37)
Canonical SPDI:: NC_000012.12:9890075:A:G
Gene:: CLEC2A (Varview), KLRF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.9890076A>G, NC_000012.11:g.10042675A>G

Select item 149069108519.

rs1490691085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:9921038 (GRCh38)
12:10073637 (GRCh37)
Canonical SPDI:: NC_000012.12:9921037:C:T
Gene:: CLEC2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00005/7 (GnomAD)
HGVS:: NC_000012.12:g.9921038C>T, NC_000012.11:g.10073637C>T

Select item 149064660120.

rs1490646601 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:9927423 (GRCh38)
12:10080022 (GRCh37)
Canonical SPDI:: NC_000012.12:9927422:A:G
Gene:: CLEC2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.9927423A>G, NC_000012.11:g.10080022A>G

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