SNP Links for Gene (Select 23365) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915815781.

rs1491581578 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:120399313 (GRCh38)
11:120270023 (GRCh37)
Canonical SPDI:: NC_000011.10:120399313:TT:TTT
Gene:: ARHGEF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.120399315dup, NC_000011.9:g.120270024dup, NG_027960.1:g.67407dup

Select item 14915514622.

rs1491551462 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 11:120347179 (GRCh38)
11:120217888 (GRCh37)
Canonical SPDI:: NC_000011.10:120347178:CC:
Gene:: ARHGEF12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00089/15 (TOMMO)
-=0.001641/3 (Korea1K)
-=0.006598/766 (GnomAD)
HGVS:: NC_000011.10:g.120347179_120347180del, NC_000011.9:g.120217888_120217889del, NG_027960.1:g.15271_15272del

Select item 14915418013.

rs1491541801 has merged into rs11289906 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:120482757 (GRCh38)
11:120353466 (GRCh37)
Canonical SPDI:: NC_000011.10:120482744:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:120482744:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:120482744:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:120482744:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:120482744:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:120482744:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:120482744:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:120482744:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ARHGEF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.4099/2053 (1000Genomes)
A=0.475/19 (GENOME_DK)
HGVS:: NC_000011.10:g.120482757_120482760del, NC_000011.10:g.120482758_120482760del, NC_000011.10:g.120482759_120482760del, NC_000011.10:g.120482760del, NC_000011.10:g.120482760dup, NC_000011.10:g.120482759_120482760dup, NC_000011.10:g.120482753_120482760dup, NC_000011.10:g.120482752_120482760dup, NC_000011.9:g.120353466_120353469del, NC_000011.9:g.120353467_120353469del, NC_000011.9:g.120353468_120353469del, NC_000011.9:g.120353469del, NC_000011.9:g.120353469dup, NC_000011.9:g.120353468_120353469dup, NC_000011.9:g.120353462_120353469dup, NC_000011.9:g.120353461_120353469dup, NG_027960.1:g.150849_150852del, NG_027960.1:g.150850_150852del, NG_027960.1:g.150851_150852del, NG_027960.1:g.150852del, NG_027960.1:g.150852dup, NG_027960.1:g.150851_150852dup, NG_027960.1:g.150845_150852dup, NG_027960.1:g.150844_150852dup

Select item 14915368514.

rs1491536851 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 11:120347183 (GRCh38)
11:120217892 (GRCh37)
Canonical SPDI:: NC_000011.10:120347182:CC:
Gene:: ARHGEF12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000026/3 (GnomAD)
HGVS:: NC_000011.10:g.120347183_120347184del, NC_000011.9:g.120217892_120217893del, NG_027960.1:g.15275_15276del

Select item 14915083485.

rs1491508348 has merged into rs11315620 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:120463533 (GRCh38)
11:120334242 (GRCh37)
Canonical SPDI:: NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:120463525:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ARHGEF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000011.10:g.120463533_120463546del, NC_000011.10:g.120463534_120463546del, NC_000011.10:g.120463535_120463546del, NC_000011.10:g.120463536_120463546del, NC_000011.10:g.120463537_120463546del, NC_000011.10:g.120463539_120463546del, NC_000011.10:g.120463542_120463546del, NC_000011.10:g.120463543_120463546del, NC_000011.10:g.120463544_120463546del, NC_000011.10:g.120463545_120463546del, NC_000011.10:g.120463546del, NC_000011.10:g.120463546dup, NC_000011.10:g.120463545_120463546dup, NC_000011.10:g.120463544_120463546dup, NC_000011.10:g.120463543_120463546dup, NC_000011.10:g.120463542_120463546dup, NC_000011.10:g.120463541_120463546dup, NC_000011.10:g.120463539_120463546dup, NC_000011.10:g.120463538_120463546dup, NC_000011.10:g.120463537_120463546dup, NC_000011.10:g.120463533_120463546dup, NC_000011.10:g.120463526_120463546A[23]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.120463526_120463546A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.10:g.120463526_120463546A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.120334242_120334255del, NC_000011.9:g.120334243_120334255del, NC_000011.9:g.120334244_120334255del, NC_000011.9:g.120334245_120334255del, NC_000011.9:g.120334246_120334255del, NC_000011.9:g.120334248_120334255del, NC_000011.9:g.120334251_120334255del, NC_000011.9:g.120334252_120334255del, NC_000011.9:g.120334253_120334255del, NC_000011.9:g.120334254_120334255del, NC_000011.9:g.120334255del, NC_000011.9:g.120334255dup, NC_000011.9:g.120334254_120334255dup, NC_000011.9:g.120334253_120334255dup, NC_000011.9:g.120334252_120334255dup, NC_000011.9:g.120334251_120334255dup, NC_000011.9:g.120334250_120334255dup, NC_000011.9:g.120334248_120334255dup, NC_000011.9:g.120334247_120334255dup, NC_000011.9:g.120334246_120334255dup, NC_000011.9:g.120334242_120334255dup, NC_000011.9:g.120334235_120334255A[23]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.120334235_120334255A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.120334235_120334255A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_027960.1:g.131625_131638del, NG_027960.1:g.131626_131638del, NG_027960.1:g.131627_131638del, NG_027960.1:g.131628_131638del, NG_027960.1:g.131629_131638del, NG_027960.1:g.131631_131638del, NG_027960.1:g.131634_131638del, NG_027960.1:g.131635_131638del, NG_027960.1:g.131636_131638del, NG_027960.1:g.131637_131638del, NG_027960.1:g.131638del, NG_027960.1:g.131638dup, NG_027960.1:g.131637_131638dup, NG_027960.1:g.131636_131638dup, NG_027960.1:g.131635_131638dup, NG_027960.1:g.131634_131638dup, NG_027960.1:g.131633_131638dup, NG_027960.1:g.131631_131638dup, NG_027960.1:g.131630_131638dup, NG_027960.1:g.131629_131638dup, NG_027960.1:g.131625_131638dup, NG_027960.1:g.131618_131638A[23]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_027960.1:g.131618_131638A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_027960.1:g.131618_131638A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14914986006.

rs1491498600 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:120344265 (GRCh38)
11:120214974 (GRCh37)
Canonical SPDI:: NC_000011.10:120344264:CA:
Gene:: ARHGEF12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000011.10:g.120344265_120344266del, NC_000011.9:g.120214974_120214975del, NG_027960.1:g.12357_12358del

Select item 14914867967.

rs1491486796 has merged into rs61347520 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 11:120410303 (GRCh38)
11:120281012 (GRCh37)
Canonical SPDI:: NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: ARHGEF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0.0003/2 (ALFA)
T=0.4117/2062 (1000Genomes)
HGVS:: NC_000011.10:g.120410303_120410306del, NC_000011.10:g.120410304_120410306del, NC_000011.10:g.120410305_120410306del, NC_000011.10:g.120410306del, NC_000011.10:g.120410306dup, NC_000011.10:g.120410305_120410306dup, NC_000011.10:g.120410300_120410306dup, NC_000011.9:g.120281012_120281015del, NC_000011.9:g.120281013_120281015del, NC_000011.9:g.120281014_120281015del, NC_000011.9:g.120281015del, NC_000011.9:g.120281015dup, NC_000011.9:g.120281014_120281015dup, NC_000011.9:g.120281009_120281015dup, NG_027960.1:g.78395_78398del, NG_027960.1:g.78396_78398del, NG_027960.1:g.78397_78398del, NG_027960.1:g.78398del, NG_027960.1:g.78398dup, NG_027960.1:g.78397_78398dup, NG_027960.1:g.78392_78398dup

Select item 14914680678.

rs1491468067 has merged into rs61347520 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 11:120410303 (GRCh38)
11:120281012 (GRCh37)
Canonical SPDI:: NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: ARHGEF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0.0003/2 (ALFA)
T=0.4117/2062 (1000Genomes)
HGVS:: NC_000011.10:g.120410303_120410306del, NC_000011.10:g.120410304_120410306del, NC_000011.10:g.120410305_120410306del, NC_000011.10:g.120410306del, NC_000011.10:g.120410306dup, NC_000011.10:g.120410305_120410306dup, NC_000011.10:g.120410300_120410306dup, NC_000011.9:g.120281012_120281015del, NC_000011.9:g.120281013_120281015del, NC_000011.9:g.120281014_120281015del, NC_000011.9:g.120281015del, NC_000011.9:g.120281015dup, NC_000011.9:g.120281014_120281015dup, NC_000011.9:g.120281009_120281015dup, NG_027960.1:g.78395_78398del, NG_027960.1:g.78396_78398del, NG_027960.1:g.78397_78398del, NG_027960.1:g.78398del, NG_027960.1:g.78398dup, NG_027960.1:g.78397_78398dup, NG_027960.1:g.78392_78398dup

Select item 14914497209.

rs1491449720 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTT,TTTCT,TTTCTTT,TTTCTTTCTTT,TTTCTTTCTTTCTTT,TTTCTTTCTTTCTTTCTTT [Show Flanks]
Chromosome:: 11:120347147 (GRCh38)
11:120217857 (GRCh37)
Canonical SPDI:: NC_000011.10:120347147::TTT,NC_000011.10:120347147::TTTCT,NC_000011.10:120347147::TTTCTTT,NC_000011.10:120347147::TTTCTTTCTTT,NC_000011.10:120347147::TTTCTTTCTTTCTTT,NC_000011.10:120347147::TTTCTTTCTTTCTTTCTTT
Gene:: ARHGEF12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000011.10:g.120347147_120347148insTTT, NC_000011.10:g.120347147_120347148insTTTCT, NC_000011.10:g.120347147_120347148insTTTCTTT, NC_000011.10:g.120347147_120347148insTTTCTTTCTTT, NC_000011.10:g.120347147_120347148insTTTCTTTCTTTCTTT, NC_000011.10:g.120347147_120347148insTTTCTTTCTTTCTTTCTTT, NC_000011.9:g.120217856_120217857insTTT, NC_000011.9:g.120217856_120217857insTTTCT, NC_000011.9:g.120217856_120217857insTTTCTTT, NC_000011.9:g.120217856_120217857insTTTCTTTCTTT, NC_000011.9:g.120217856_120217857insTTTCTTTCTTTCTTT, NC_000011.9:g.120217856_120217857insTTTCTTTCTTTCTTTCTTT, NG_027960.1:g.15239_15240insTTT, NG_027960.1:g.15239_15240insTTTCT, NG_027960.1:g.15239_15240insTTTCTTT, NG_027960.1:g.15239_15240insTTTCTTTCTTT, NG_027960.1:g.15239_15240insTTTCTTTCTTTCTTT, NG_027960.1:g.15239_15240insTTTCTTTCTTTCTTTCTTT

Select item 149143784210.

rs1491437842 [Homo sapiens]

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

Select item 149143224411.

rs1491432244 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:120344294 (GRCh38)
11:120215004 (GRCh37)
Canonical SPDI:: NC_000011.10:120344294:C:CC
Gene:: ARHGEF12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD)
HGVS:: NC_000011.10:g.120344295dup, NC_000011.9:g.120215004dup, NG_027960.1:g.12387dup

Select item 149142109812.

rs1491421098 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:120425776 (GRCh38)
11:120296486 (GRCh37)
Canonical SPDI:: NC_000011.10:120425776::G
Gene:: ARHGEF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.120425776_120425777insG, NC_000011.9:g.120296485_120296486insG, NG_027960.1:g.93868_93869insG

Select item 149141931413.

rs1491419314 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTT [Show Flanks]
Chromosome:: 11:120410294 (GRCh38)
11:120281004 (GRCh37)
Canonical SPDI:: NC_000011.10:120410294:TT:TTGTT
Gene:: ARHGEF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGTT=0.000071/1 (ALFA)
TTG=0.000008/2 (TOPMED)
TTG=0.000093/2 (GnomAD)
HGVS:: NC_000011.10:g.120410296_120410297insGTT, NC_000011.9:g.120281005_120281006insGTT, NG_027960.1:g.78388_78389insGTT

Select item 149140364014.

rs1491403640 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:120463525 (GRCh38)
11:120334234 (GRCh37)
Canonical SPDI:: NC_000011.10:120463524:CA:
Gene:: ARHGEF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00371/44 (ALFA)
HGVS:: NC_000011.10:g.120463525_120463526del, NC_000011.9:g.120334234_120334235del, NG_027960.1:g.131617_131618del

Select item 149140222815.

rs1491402228 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:120477882 (GRCh38)
11:120348592 (GRCh37)
Canonical SPDI:: NC_000011.10:120477882:G:GG
Gene:: ARHGEF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000119/2 (TOMMO)
HGVS:: NC_000011.10:g.120477883dup, NC_000011.9:g.120348592dup, NG_027960.1:g.145975dup

Select item 149139571716.

rs1491395717 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG [Show Flanks]
Chromosome:: 11:120442464 (GRCh38)
11:120313174 (GRCh37)
Canonical SPDI:: NC_000011.10:120442464::TG
Gene:: ARHGEF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TG=0./0 (ALFA)
TG=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.120442464_120442465insTG, NC_000011.9:g.120313173_120313174insTG, NG_027960.1:g.110556_110557insTG

Select item 149139422017.

rs1491394220 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:120421443 (GRCh38)
11:120292153 (GRCh37)
Canonical SPDI:: NC_000011.10:120421443::C
Gene:: ARHGEF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.120421443_120421444insC, NC_000011.9:g.120292152_120292153insC, NG_027960.1:g.89535_89536insC

Select item 149136210218.

rs1491362102 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCTT,TCTTTCTT [Show Flanks]
Chromosome:: 11:120347167 (GRCh38)
11:120217877 (GRCh37)
Canonical SPDI:: NC_000011.10:120347167:CTT:CTTTCTT,NC_000011.10:120347167:CTT:CTTTCTTTCTT
Gene:: ARHGEF12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CTTTCTTTCTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.120347170_120347171insTCTT, NC_000011.10:g.120347170_120347171insTCTTTCTT, NC_000011.9:g.120217879_120217880insTCTT, NC_000011.9:g.120217879_120217880insTCTTTCTT, NG_027960.1:g.15262_15263insTCTT, NG_027960.1:g.15262_15263insTCTTTCTT

Select item 149135677519.

rs1491356775 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 11:120410293 (GRCh38)
11:120281002 (GRCh37)
Canonical SPDI:: NC_000011.10:120410292:GT:
Gene:: ARHGEF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00008/7 (GnomAD)
-=0.00057/9 (TOMMO)
HGVS:: NC_000011.10:g.120410293_120410294del, NC_000011.9:g.120281002_120281003del, NG_027960.1:g.78385_78386del

Select item 149134651720.

rs1491346517 has merged into rs138723165 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 11:120334847 (GRCh38)
11:120205556 (GRCh37)
Canonical SPDI:: NC_000011.10:120334845:TATAT:T,NC_000011.10:120334845:TATAT:TAT,NC_000011.10:120334845:TATAT:TATATAT
Gene:: ARHGEF12 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
TA=0.395/237 (NorthernSweden)
HGVS:: NC_000011.10:g.120334847_120334850del, NC_000011.10:g.120334847AT[1], NC_000011.10:g.120334847AT[3], NC_000011.9:g.120205556_120205559del, NC_000011.9:g.120205556AT[1], NC_000011.9:g.120205556AT[3], NG_027960.1:g.2939_2942del, NG_027960.1:g.2939AT[1], NG_027960.1:g.2939AT[3]

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity