SNP Links for Gene (Select 92) - SNP

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Select item 14915451221.

rs1491545122 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:147890342 (GRCh38)
2:148647912 (GRCh37)
Canonical SPDI:: NC_000002.12:147890342:T:TT
Gene:: ACVR2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
T=0.000038/10 (TOPMED)
T=0.001793/5 (GnomAD)
HGVS:: NC_000002.12:g.147890343dup, NC_000002.11:g.148647912dup

Select item 14915113992.

rs1491511399 has merged into rs1165342903 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 2:147881663 (GRCh38)
2:148639232 (GRCh37)
Canonical SPDI:: NC_000002.12:147881662:TTTTTTTT:TTTTTTT,NC_000002.12:147881662:TTTTTTTT:TTTTTTTTT
Gene:: ACVR2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.00018/3 (TOMMO)
HGVS:: NC_000002.12:g.147881670del, NC_000002.12:g.147881670dup, NC_000002.11:g.148639239del, NC_000002.11:g.148639239dup

Select item 14915076343.

rs1491507634 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:147844966 (GRCh38)
2:148602535 (GRCh37)
Canonical SPDI:: NC_000002.12:147844963:CTCT:CT
Gene:: ACVR2A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.00002/1 (GnomAD)
-=0.00016/1 (1000Genomes)
HGVS:: NC_000002.12:g.147844964CT[1], NC_000002.11:g.148602533CT[1]

Select item 14914617984.

rs1491461798 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TT [Show Flanks]
Chromosome:: 2:147844964 (GRCh38)
2:148602534 (GRCh37)
Canonical SPDI:: NC_000002.12:147844964:T:TT,NC_000002.12:147844964:T:TTT
Gene:: ACVR2A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.147844965dup, NC_000002.12:g.147844965_147844966insTT, NC_000002.11:g.148602534dup, NC_000002.11:g.148602534_148602535insTT

Select item 14914574625.

rs1491457462 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:147930856 (GRCh38)
2:148688425 (GRCh37)
Canonical SPDI:: NC_000002.12:147930854:TGT:T
Gene:: ACVR2A (Varview), ORC4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000079/9 (GnomAD)
-=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.147930856_147930857del, NC_000002.11:g.148688425_148688426del, NG_028252.1:g.95749_95750del, NM_002552.5:c.*4654_*4655del, NM_002552.4:c.*4654_*4655del, NM_181741.4:c.*4654_*4655del, NM_181741.3:c.*4654_*4655del, NM_181742.4:c.*4654_*4655del, NM_181742.3:c.*4654_*4655del, NM_001190879.3:c.*4654_*4655del, NM_001190879.2:c.*4654_*4655del, NM_001190882.3:c.*4654_*4655del, NM_001190882.2:c.*4654_*4655del, NM_001190881.3:c.*4654_*4655del, NM_001190881.2:c.*4654_*4655del, NM_001374270.1:c.*4654_*4655del, NM_001374272.1:c.*4654_*4655del, XM_011511255.3:c.*4654_*4655del

Select item 14913544226.

rs1491354422 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:147929050 (GRCh38)
2:148686619 (GRCh37)
Canonical SPDI:: NC_000002.12:147929048:TAT:T
Gene:: ACVR2A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000043/6 (GnomAD)
HGVS:: NC_000002.12:g.147929050_147929051del, NC_000002.11:g.148686619_148686620del, NG_028252.1:g.97555_97556del, NM_001616.5:c.*1776_*1777del, NM_001616.4:c.*1776_*1777del, NM_001278579.2:c.*1776_*1777del, NM_001278579.1:c.*1776_*1777del, NM_001278580.2:c.*1776_*1777del, NM_001278580.1:c.*1776_*1777del, XM_047446292.1:c.*1776_*1777del

Select item 14913365127.

rs1491336512 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:147881662 (GRCh38)
2:148639231 (GRCh37)
Canonical SPDI:: NC_000002.12:147881661:GT:
Gene:: ACVR2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.147881662_147881663del, NC_000002.11:g.148639231_148639232del

Select item 14913099218.

rs1491309921 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATG [Show Flanks]
Chromosome:: 2:147929049 (GRCh38)
2:148686619 (GRCh37)
Canonical SPDI:: NC_000002.12:147929049:ATG:ATGATG
Gene:: ACVR2A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATGATG=0./0 (ALFA)
ATG=0.000004/1 (TOPMED)
ATG=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.147929050_147929052dup, NC_000002.11:g.148686619_148686621dup, NG_028252.1:g.97553_97555dup, NM_001616.5:c.*1776_*1778dup, NM_001616.4:c.*1776_*1778dup, NM_001278579.2:c.*1776_*1778dup, NM_001278579.1:c.*1776_*1778dup, NM_001278580.2:c.*1776_*1778dup, NM_001278580.1:c.*1776_*1778dup, XM_047446292.1:c.*1776_*1778dup

Select item 14912903209.

rs1491290320 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 2:147845349 (GRCh38)
2:148602919 (GRCh37)
Canonical SPDI:: NC_000002.12:147845349:C:CGC
Gene:: ACVR2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CGC=0./0 (ALFA)
HGVS:: NC_000002.12:g.147845350_147845351insGC, NC_000002.11:g.148602919_148602920insGC

Select item 149125176610.

rs1491251766 has merged into rs145075375 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:147881621 (GRCh38)
2:148639190 (GRCh37)
Canonical SPDI:: NC_000002.12:147881602:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000002.12:147881602:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000002.12:147881602:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:147881602:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:147881602:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:147881602:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:147881602:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:147881602:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:147881602:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:147881602:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:147881602:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:147881602:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:147881602:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:147881602:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:147881602:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:147881602:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:147881602:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:147881602:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:147881602:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:147881602:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: ACVR2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000002.12:g.147881603GT[9], NC_000002.12:g.147881603GT[10], NC_000002.12:g.147881603GT[11], NC_000002.12:g.147881603GT[12], NC_000002.12:g.147881603GT[13], NC_000002.12:g.147881603GT[14], NC_000002.12:g.147881603GT[15], NC_000002.12:g.147881603GT[16], NC_000002.12:g.147881603GT[17], NC_000002.12:g.147881603GT[18], NC_000002.12:g.147881603GT[19], NC_000002.12:g.147881603GT[21], NC_000002.12:g.147881603GT[22], NC_000002.12:g.147881603GT[23], NC_000002.12:g.147881603GT[24], NC_000002.12:g.147881603GT[25], NC_000002.12:g.147881603GT[26], NC_000002.12:g.147881603GT[27], NC_000002.12:g.147881603GT[28], NC_000002.12:g.147881603GT[30], NC_000002.11:g.148639172GT[9], NC_000002.11:g.148639172GT[10], NC_000002.11:g.148639172GT[11], NC_000002.11:g.148639172GT[12], NC_000002.11:g.148639172GT[13], NC_000002.11:g.148639172GT[14], NC_000002.11:g.148639172GT[15], NC_000002.11:g.148639172GT[16], NC_000002.11:g.148639172GT[17], NC_000002.11:g.148639172GT[18], NC_000002.11:g.148639172GT[19], NC_000002.11:g.148639172GT[21], NC_000002.11:g.148639172GT[22], NC_000002.11:g.148639172GT[23], NC_000002.11:g.148639172GT[24], NC_000002.11:g.148639172GT[25], NC_000002.11:g.148639172GT[26], NC_000002.11:g.148639172GT[27], NC_000002.11:g.148639172GT[28], NC_000002.11:g.148639172GT[30]

Select item 149106130711.

rs1491061307 has merged into rs549077029 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:147887217 (GRCh38)
2:148644786 (GRCh37)
Canonical SPDI:: NC_000002.12:147887211:AAAAAAAAAAAAAA:AAAAA,NC_000002.12:147887211:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:147887211:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:147887211:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:147887211:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:147887211:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:147887211:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: ACVR2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000068/18 (TOPMED)
-=0.001398/7 (1000Genomes)
A=0.020067/12 (NorthernSweden)
-=0.075/3 (GENOME_DK)
HGVS:: NC_000002.12:g.147887217_147887225del, NC_000002.12:g.147887221_147887225del, NC_000002.12:g.147887224_147887225del, NC_000002.12:g.147887225del, NC_000002.12:g.147887225dup, NC_000002.12:g.147887224_147887225dup, NC_000002.12:g.147887223_147887225dup, NC_000002.11:g.148644786_148644794del, NC_000002.11:g.148644790_148644794del, NC_000002.11:g.148644793_148644794del, NC_000002.11:g.148644794del, NC_000002.11:g.148644794dup, NC_000002.11:g.148644793_148644794dup, NC_000002.11:g.148644792_148644794dup

Select item 149104652912.

rs1491046529 has merged into rs1013093217 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AAA,AAAA,AAAAAA [Show Flanks]
Chromosome:: 2:147908069 (GRCh38)
2:148665638 (GRCh37)
Canonical SPDI:: NC_000002.12:147908064:AAAAAAAAA:AAAA,NC_000002.12:147908064:AAAAAAAAA:AAAAA,NC_000002.12:147908064:AAAAAAAAA:AAAAAAA,NC_000002.12:147908064:AAAAAAAAA:AAAAAAAA,NC_000002.12:147908064:AAAAAAAAA:AAAAAAAAAA
Gene:: ACVR2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
A=0.00007/2 (TOMMO)
A=0.01761/10 (NorthernSweden)
HGVS:: NC_000002.12:g.147908069_147908073del, NC_000002.12:g.147908070_147908073del, NC_000002.12:g.147908072_147908073del, NC_000002.12:g.147908073del, NC_000002.12:g.147908073dup, NC_000002.11:g.148665638_148665642del, NC_000002.11:g.148665639_148665642del, NC_000002.11:g.148665641_148665642del, NC_000002.11:g.148665642del, NC_000002.11:g.148665642dup

Select item 149104413113.

rs1491044131 has merged into rs369876665 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:147906828 (GRCh38)
2:148664397 (GRCh37)
Canonical SPDI:: NC_000002.12:147906818:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:147906818:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:147906818:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:147906818:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:147906818:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:147906818:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:147906818:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:147906818:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:147906818:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:147906818:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:147906818:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:147906818:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:147906818:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:147906818:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:147906818:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:147906818:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:147906818:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:147906818:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ACVR2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.225/9 (GENOME_DK)
-=0.5/4 (KOREAN)
HGVS:: NC_000002.12:g.147906828_147906839del, NC_000002.12:g.147906832_147906839del, NC_000002.12:g.147906835_147906839del, NC_000002.12:g.147906836_147906839del, NC_000002.12:g.147906837_147906839del, NC_000002.12:g.147906838_147906839del, NC_000002.12:g.147906839del, NC_000002.12:g.147906839dup, NC_000002.12:g.147906838_147906839dup, NC_000002.12:g.147906837_147906839dup, NC_000002.12:g.147906836_147906839dup, NC_000002.12:g.147906835_147906839dup, NC_000002.12:g.147906834_147906839dup, NC_000002.12:g.147906833_147906839dup, NC_000002.12:g.147906832_147906839dup, NC_000002.12:g.147906831_147906839dup, NC_000002.12:g.147906823_147906839dup, NC_000002.12:g.147906839_147906840insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.148664397_148664408del, NC_000002.11:g.148664401_148664408del, NC_000002.11:g.148664404_148664408del, NC_000002.11:g.148664405_148664408del, NC_000002.11:g.148664406_148664408del, NC_000002.11:g.148664407_148664408del, NC_000002.11:g.148664408del, NC_000002.11:g.148664408dup, NC_000002.11:g.148664407_148664408dup, NC_000002.11:g.148664406_148664408dup, NC_000002.11:g.148664405_148664408dup, NC_000002.11:g.148664404_148664408dup, NC_000002.11:g.148664403_148664408dup, NC_000002.11:g.148664402_148664408dup, NC_000002.11:g.148664401_148664408dup, NC_000002.11:g.148664400_148664408dup, NC_000002.11:g.148664392_148664408dup, NC_000002.11:g.148664408_148664409insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149099990814.

rs1490999908 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:147927657 (GRCh38)
2:148685226 (GRCh37)
Canonical SPDI:: NC_000002.12:147927656:A:T
Gene:: ACVR2A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.147927657A>T, NC_000002.11:g.148685226A>T, NM_001616.5:c.*383A>T, NM_001616.4:c.*383A>T, NM_001278579.2:c.*383A>T, NM_001278579.1:c.*383A>T, NM_001278580.2:c.*383A>T, NM_001278580.1:c.*383A>T, XM_047446292.1:c.*383A>T

Select item 149097887715.

rs1490978877 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:147854511 (GRCh38)
2:148612080 (GRCh37)
Canonical SPDI:: NC_000002.12:147854510:A:G
Gene:: ACVR2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.147854511A>G, NC_000002.11:g.148612080A>G

Select item 149096642016.

rs1490966420 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:147911255 (GRCh38)
2:148668824 (GRCh37)
Canonical SPDI:: NC_000002.12:147911254:T:G
Gene:: ACVR2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.147911255T>G, NC_000002.11:g.148668824T>G

Select item 149086880917.

rs1490868809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:147903482 (GRCh38)
2:148661051 (GRCh37)
Canonical SPDI:: NC_000002.12:147903481:C:G
Gene:: ACVR2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.147903482C>G, NC_000002.11:g.148661051C>G

Select item 149081653418.

rs1490816534 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:147921540 (GRCh38)
2:148679109 (GRCh37)
Canonical SPDI:: NC_000002.12:147921539:T:G
Gene:: ACVR2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.147921540T>G, NC_000002.11:g.148679109T>G

Select item 149079407219.

rs1490794072 has merged into rs368084936 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATA>- [Show Flanks]
Chromosome:: 2:147883565 (GRCh38)
2:148641134 (GRCh37)
Canonical SPDI:: NC_000002.12:147883562:TAATA:TA
Gene:: ACVR2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0.000071/1 (ALFA)
-=0.00015/21 (GnomAD)
-=0.000159/42 (TOPMED)
HGVS:: NC_000002.12:g.147883565_147883567del, NC_000002.11:g.148641134_148641136del

Select item 149079200120.

rs1490792001 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:147878863 (GRCh38)
2:148636432 (GRCh37)
Canonical SPDI:: NC_000002.12:147878862:C:A
Gene:: ACVR2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.147878863C>A, NC_000002.11:g.148636432C>A

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