SNP Links for Gene (Select 8493) - SNP

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Select item 14915435691.

rs1491543569 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:60619421 (GRCh38)
17:58696783 (GRCh37)
Canonical SPDI:: NC_000017.11:60619421:T:TT
Gene:: PPM1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000142/2 (ALFA)
T=0.000189/50 (TOPMED)
T=0.000228/32 (GnomAD)
HGVS:: NC_000017.11:g.60619422dup, NC_000017.10:g.58696783dup, NG_023265.1:g.24230dup

Select item 14915245452.

rs1491524545 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:60652575 (GRCh38)
17:58729936 (GRCh37)
Canonical SPDI:: NC_000017.11:60652574:TG:
Gene:: PPM1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.60652575_60652576del, NC_000017.10:g.58729936_58729937del, NG_023265.1:g.57383_57384del

Select item 14915128113.

rs1491512811 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:60644905 (GRCh38)
17:58722266 (GRCh37)
Canonical SPDI:: NC_000017.11:60644901:TGTGT:TGT
Gene:: PPM1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0.000447/2 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000446/2 (Estonian)
HGVS:: NC_000017.11:g.60644903GT[1], NC_000017.10:g.58722264GT[1], NG_023265.1:g.49711GT[1]

Select item 14915086284.

rs1491508628 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:60602779 (GRCh38)
17:58680140 (GRCh37)
Canonical SPDI:: NC_000017.11:60602778:GA:
Gene:: PPM1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000017.11:g.60602779_60602780del, NC_000017.10:g.58680140_58680141del, NG_023265.1:g.7587_7588del

Select item 14914396905.

rs1491439690 has merged into rs371276467 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 17:60645470 (GRCh38)
17:58722831 (GRCh37)
Canonical SPDI:: NC_000017.11:60645456:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000017.11:60645456:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000017.11:60645456:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000017.11:60645456:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:60645456:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:60645456:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:60645456:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:60645456:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:60645456:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:60645456:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:60645456:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:60645456:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:60645456:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:60645456:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:60645456:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:60645456:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:60645456:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:60645456:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:60645456:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:60645456:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: PPM1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0.1911/957 (1000Genomes)
HGVS:: NC_000017.11:g.60645458GT[6], NC_000017.11:g.60645458GT[7], NC_000017.11:g.60645458GT[10], NC_000017.11:g.60645458GT[11], NC_000017.11:g.60645458GT[12], NC_000017.11:g.60645458GT[13], NC_000017.11:g.60645458GT[14], NC_000017.11:g.60645458GT[15], NC_000017.11:g.60645458GT[16], NC_000017.11:g.60645458GT[17], NC_000017.11:g.60645458GT[19], NC_000017.11:g.60645458GT[20], NC_000017.11:g.60645458GT[21], NC_000017.11:g.60645458GT[22], NC_000017.11:g.60645458GT[23], NC_000017.11:g.60645458GT[24], NC_000017.11:g.60645458GT[25], NC_000017.11:g.60645458GT[26], NC_000017.11:g.60645458GT[27], NC_000017.11:g.60645458GT[28], NC_000017.10:g.58722819GT[6], NC_000017.10:g.58722819GT[7], NC_000017.10:g.58722819GT[10], NC_000017.10:g.58722819GT[11], NC_000017.10:g.58722819GT[12], NC_000017.10:g.58722819GT[13], NC_000017.10:g.58722819GT[14], NC_000017.10:g.58722819GT[15], NC_000017.10:g.58722819GT[16], NC_000017.10:g.58722819GT[17], NC_000017.10:g.58722819GT[19], NC_000017.10:g.58722819GT[20], NC_000017.10:g.58722819GT[21], NC_000017.10:g.58722819GT[22], NC_000017.10:g.58722819GT[23], NC_000017.10:g.58722819GT[24], NC_000017.10:g.58722819GT[25], NC_000017.10:g.58722819GT[26], NC_000017.10:g.58722819GT[27], NC_000017.10:g.58722819GT[28], NG_023265.1:g.50266GT[6], NG_023265.1:g.50266GT[7], NG_023265.1:g.50266GT[10], NG_023265.1:g.50266GT[11], NG_023265.1:g.50266GT[12], NG_023265.1:g.50266GT[13], NG_023265.1:g.50266GT[14], NG_023265.1:g.50266GT[15], NG_023265.1:g.50266GT[16], NG_023265.1:g.50266GT[17], NG_023265.1:g.50266GT[19], NG_023265.1:g.50266GT[20], NG_023265.1:g.50266GT[21], NG_023265.1:g.50266GT[22], NG_023265.1:g.50266GT[23], NG_023265.1:g.50266GT[24], NG_023265.1:g.50266GT[25], NG_023265.1:g.50266GT[26], NG_023265.1:g.50266GT[27], NG_023265.1:g.50266GT[28]

Select item 14914243136.

rs1491424313 has merged into rs201335786 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 17:60648400 (GRCh38)
17:58725761 (GRCh37)
Canonical SPDI:: NC_000017.11:60648386:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:60648386:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:60648386:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:60648386:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:60648386:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:60648386:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:60648386:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: PPM1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.00333/2 (NorthernSweden)
-=0.15595/781 (1000Genomes)
HGVS:: NC_000017.11:g.60648400_60648402del, NC_000017.11:g.60648401_60648402del, NC_000017.11:g.60648402del, NC_000017.11:g.60648402dup, NC_000017.11:g.60648401_60648402dup, NC_000017.11:g.60648400_60648402dup, NC_000017.11:g.60648399_60648402dup, NC_000017.10:g.58725761_58725763del, NC_000017.10:g.58725762_58725763del, NC_000017.10:g.58725763del, NC_000017.10:g.58725763dup, NC_000017.10:g.58725762_58725763dup, NC_000017.10:g.58725761_58725763dup, NC_000017.10:g.58725760_58725763dup, NG_023265.1:g.53208_53210del, NG_023265.1:g.53209_53210del, NG_023265.1:g.53210del, NG_023265.1:g.53210dup, NG_023265.1:g.53209_53210dup, NG_023265.1:g.53208_53210dup, NG_023265.1:g.53207_53210dup

Select item 14913881667.

rs1491388166 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:60655245 (GRCh38)
17:58732607 (GRCh37)
Canonical SPDI:: NC_000017.11:60655245:A:AA
Gene:: PPM1D (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.60655246dup, NC_000017.10:g.58732607dup, NG_023265.1:g.60054dup

Select item 14913278538.

rs1491327853 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:60648386 (GRCh38)
17:58725747 (GRCh37)
Canonical SPDI:: NC_000017.11:60648385:GT:
Gene:: PPM1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00015/20 (GnomAD)
HGVS:: NC_000017.11:g.60648386_60648387del, NC_000017.10:g.58725747_58725748del, NG_023265.1:g.53194_53195del

Select item 14912782009.

rs1491278200 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAG [Show Flanks]
Chromosome:: 17:60644902 (GRCh38)
17:58722264 (GRCh37)
Canonical SPDI:: NC_000017.11:60644902::TAG
Gene:: PPM1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TAG=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.60644902_60644903insTAG, NC_000017.10:g.58722263_58722264insTAG, NG_023265.1:g.49710_49711insTAG

Select item 149125724810.

rs1491257248 [Homo sapiens]

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

Select item 149123023111.

rs1491230231 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:60663124 (GRCh38)
17:58740485 (GRCh37)
Canonical SPDI:: NC_000017.11:60663121:GTGT:GT
Gene:: PPM1D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000017.11:g.60663122GT[1], NC_000017.10:g.58740483GT[1], NG_023265.1:g.67930GT[1], NM_003620.4:c.1390_1391del, NM_003620.3:c.1390_1391del, XR_934577.3:n.1721GT[1], XR_934577.2:n.1727GT[1], NP_003611.1:p.Val464fs

Select item 149118326812.

rs1491183268 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:60663122 (GRCh38)
17:58740484 (GRCh37)
Canonical SPDI:: NC_000017.11:60663122:T:TT
Gene:: PPM1D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.60663123dup, NC_000017.10:g.58740484dup, NG_023265.1:g.67931dup, NM_003620.4:c.1389dup, NM_003620.3:c.1389dup, XR_934577.3:n.1722dup, XR_934577.2:n.1728dup, NP_003611.1:p.Val464fs

Select item 149116022113.

rs1491160221 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTAGG [Show Flanks]
Chromosome:: 17:60652575 (GRCh38)
17:58729937 (GRCh37)
Canonical SPDI:: NC_000017.11:60652575::TTAGG
Gene:: PPM1D (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.60652575_60652576insTTAGG, NC_000017.10:g.58729936_58729937insTTAGG, NG_023265.1:g.57383_57384insTTAGG

Select item 149110644714.

rs1491106447 has merged into rs34932283 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:60602793 (GRCh38)
17:58680154 (GRCh37)
Canonical SPDI:: NC_000017.11:60602779:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:60602779:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:60602779:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:60602779:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:60602779:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:60602779:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:60602779:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:60602779:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:60602779:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:60602779:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:60602779:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:60602779:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPM1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.244/1222 (1000Genomes)
HGVS:: NC_000017.11:g.60602793_60602800del, NC_000017.11:g.60602794_60602800del, NC_000017.11:g.60602796_60602800del, NC_000017.11:g.60602797_60602800del, NC_000017.11:g.60602798_60602800del, NC_000017.11:g.60602799_60602800del, NC_000017.11:g.60602800del, NC_000017.11:g.60602800dup, NC_000017.11:g.60602799_60602800dup, NC_000017.11:g.60602798_60602800dup, NC_000017.11:g.60602797_60602800dup, NC_000017.11:g.60602794_60602800dup, NC_000017.10:g.58680154_58680161del, NC_000017.10:g.58680155_58680161del, NC_000017.10:g.58680157_58680161del, NC_000017.10:g.58680158_58680161del, NC_000017.10:g.58680159_58680161del, NC_000017.10:g.58680160_58680161del, NC_000017.10:g.58680161del, NC_000017.10:g.58680161dup, NC_000017.10:g.58680160_58680161dup, NC_000017.10:g.58680159_58680161dup, NC_000017.10:g.58680158_58680161dup, NC_000017.10:g.58680155_58680161dup, NG_023265.1:g.7601_7608del, NG_023265.1:g.7602_7608del, NG_023265.1:g.7604_7608del, NG_023265.1:g.7605_7608del, NG_023265.1:g.7606_7608del, NG_023265.1:g.7607_7608del, NG_023265.1:g.7608del, NG_023265.1:g.7608dup, NG_023265.1:g.7607_7608dup, NG_023265.1:g.7606_7608dup, NG_023265.1:g.7605_7608dup, NG_023265.1:g.7602_7608dup

Select item 149109841615.

rs1491098416 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:60645495 (GRCh38)
17:58722857 (GRCh37)
Canonical SPDI:: NC_000017.11:60645495::A
Gene:: PPM1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000016/2 (GnomAD)
HGVS:: NC_000017.11:g.60645495_60645496insA, NC_000017.10:g.58722856_58722857insA, NG_023265.1:g.50303_50304insA

Select item 149109559516.

rs1491095595 has merged into rs1406303977 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 17:60645496 (GRCh38)
17:58722857 (GRCh37)
Canonical SPDI:: NC_000017.11:60645494:TGTGT:T,NC_000017.11:60645494:TGTGT:TGT,NC_000017.11:60645494:TGTGT:TGTGTGT,NC_000017.11:60645494:TGTGT:TGTGTGTGTGT
Gene:: PPM1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000072/1 (TOMMO)
HGVS:: NC_000017.11:g.60645496_60645499del, NC_000017.11:g.60645496GT[1], NC_000017.11:g.60645496GT[3], NC_000017.11:g.60645496GT[5], NC_000017.10:g.58722857_58722860del, NC_000017.10:g.58722857GT[1], NC_000017.10:g.58722857GT[3], NC_000017.10:g.58722857GT[5], NG_023265.1:g.50304_50307del, NG_023265.1:g.50304GT[1], NG_023265.1:g.50304GT[3], NG_023265.1:g.50304GT[5]

Select item 149098271617.

rs1490982716 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:60660985 (GRCh38)
17:58738346 (GRCh37)
Canonical SPDI:: NC_000017.11:60660984:G:A
Gene:: PPM1D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000034/9 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.60660985G>A, NC_000017.10:g.58738346G>A, NG_023265.1:g.65793G>A

Select item 149096433518.

rs1490964335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:60645420 (GRCh38)
17:58722781 (GRCh37)
Canonical SPDI:: NC_000017.11:60645419:G:A
Gene:: PPM1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.60645420G>A, NC_000017.10:g.58722781G>A, NG_023265.1:g.50228G>A

Select item 149095193919.

rs1490951939 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:60658724 (GRCh38)
17:58736085 (GRCh37)
Canonical SPDI:: NC_000017.11:60658723:G:A
Gene:: PPM1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.60658724G>A, NC_000017.10:g.58736085G>A, NG_023265.1:g.63532G>A

Select item 149094567320.

rs1490945673 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:60658970 (GRCh38)
17:58736331 (GRCh37)
Canonical SPDI:: NC_000017.11:60658969:A:G
Gene:: PPM1D (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_000017.11:g.60658970A>G, NC_000017.10:g.58736331A>G, NG_023265.1:g.63778A>G

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