SNP Links for Gene (Select 65975) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915819421.

rs1491581942 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGATATATATGATATATATATCATATATATA>-,TGATATATATGATATATATATCATATATATATGATATATATGATATATATATCATATATATA [Show Flanks]
Chromosome:: 11:8553241 (GRCh38)
11:8574788 (GRCh37)
Canonical SPDI:: NC_000011.10:8553231:ATATATATATGATATATATGATATATATATCATATATATA:ATATATATA,NC_000011.10:8553231:ATATATATATGATATATATGATATATATATCATATATATA:ATATATATATGATATATATGATATATATATCATATATATATGATATATATGATATATATATCATATATATA
Gene:: STK33 (Varview), LOC124900315 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATATATATA=0./0 (ALFA)
ATATATATATGATATATATGATATATATATC=0.00002/2 (GnomAD)
HGVS:: NC_000011.10:g.8553241_8553271del, NC_000011.10:g.8553241_8553271dup, NC_000011.9:g.8574788_8574818del, NC_000011.9:g.8574788_8574818dup

Select item 14915739322.

rs1491573932 has merged into rs11312849 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 11:8587601 (GRCh38)
11:8609148 (GRCh37)
Canonical SPDI:: NC_000011.10:8587587:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:8587587:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:8587587:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:8587587:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:8587587:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:8587587:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:8587587:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:8587587:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8587587:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: STK33 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.0737/369 (1000Genomes)
HGVS:: NC_000011.10:g.8587601_8587606del, NC_000011.10:g.8587602_8587606del, NC_000011.10:g.8587603_8587606del, NC_000011.10:g.8587604_8587606del, NC_000011.10:g.8587605_8587606del, NC_000011.10:g.8587606del, NC_000011.10:g.8587606dup, NC_000011.10:g.8587605_8587606dup, NC_000011.10:g.8587604_8587606dup, NC_000011.9:g.8609148_8609153del, NC_000011.9:g.8609149_8609153del, NC_000011.9:g.8609150_8609153del, NC_000011.9:g.8609151_8609153del, NC_000011.9:g.8609152_8609153del, NC_000011.9:g.8609153del, NC_000011.9:g.8609153dup, NC_000011.9:g.8609152_8609153dup, NC_000011.9:g.8609151_8609153dup

Select item 14915582993.

rs1491558299 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 11:8378385 (GRCh38)
11:8399933 (GRCh37)
Canonical SPDI:: NC_000011.10:8378385::CA
Gene:: STK33 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CA=0.000084/1 (ALFA)
CA=0.000072/19 (TOPMED)
HGVS:: NC_000011.10:g.8378385_8378386insCA, NC_000011.9:g.8399932_8399933insCA

Select item 14915439964.

rs1491543996 has merged into rs1263298889 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 11:8477177 (GRCh38)
11:8498724 (GRCh37)
Canonical SPDI:: NC_000011.10:8477175:ATA:A,NC_000011.10:8477175:ATA:ATATA
Gene:: STK33 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATA=0./0 (ALFA)
AT=0.000004/1 (TOPMED)
-=0.000312/2 (1000Genomes)
-=0.000354/6 (TOMMO)
-=0.000918/128 (GnomAD)
HGVS:: NC_000011.10:g.8477177_8477178del, NC_000011.10:g.8477177_8477178dup, NC_000011.9:g.8498724_8498725del, NC_000011.9:g.8498724_8498725dup, XM_047427471.1:c.-652_-651del, XM_047427471.1:c.-652_-651dup

Select item 14915367475.

rs1491536747 has merged into rs1554950292 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT [Show Flanks]
Chromosome:: 11:8462483 (GRCh38)
11:8484030 (GRCh37)
Canonical SPDI:: NC_000011.10:8462472:ATATATATATATAT:ATATATATAT,NC_000011.10:8462472:ATATATATATATAT:ATATATATATAT,NC_000011.10:8462472:ATATATATATATAT:ATATATATATATATAT,NC_000011.10:8462472:ATATATATATATAT:ATATATATATATATATAT,NC_000011.10:8462472:ATATATATATATAT:ATATATATATATATATATAT,NC_000011.10:8462472:ATATATATATATAT:ATATATATATATATATATATAT,NC_000011.10:8462472:ATATATATATATAT:ATATATATATATATATATATATAT,NC_000011.10:8462472:ATATATATATATAT:ATATATATATATATATATATATATAT
Gene:: STK33 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATAT=0./0 (ALFA)
AT=0.03603/66 (Korea1K)
HGVS:: NC_000011.10:g.8462473AT[5], NC_000011.10:g.8462473AT[6], NC_000011.10:g.8462473AT[8], NC_000011.10:g.8462473AT[9], NC_000011.10:g.8462473AT[10], NC_000011.10:g.8462473AT[11], NC_000011.10:g.8462473AT[12], NC_000011.10:g.8462473AT[13], NC_000011.9:g.8484020AT[5], NC_000011.9:g.8484020AT[6], NC_000011.9:g.8484020AT[8], NC_000011.9:g.8484020AT[9], NC_000011.9:g.8484020AT[10], NC_000011.9:g.8484020AT[11], NC_000011.9:g.8484020AT[12], NC_000011.9:g.8484020AT[13]

Select item 14914337606.

rs1491433760 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 11:8553198 (GRCh38)
11:8574745 (GRCh37)
Canonical SPDI:: NC_000011.10:8553197:GG:
Gene:: STK33 (Varview), LOC124900315 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00787/455 (GnomAD)
-=0.02995/497 (TOMMO)
HGVS:: NC_000011.10:g.8553198_8553199del, NC_000011.9:g.8574745_8574746del

Select item 14914269867.

rs1491426986 has merged into rs146704085 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 11:8380575 (GRCh38)
11:8402122 (GRCh37)
Canonical SPDI:: NC_000011.10:8380560:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:8380560:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:8380560:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:8380560:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:8380560:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:8380560:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: STK33 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.8380575_8380577del, NC_000011.10:g.8380576_8380577del, NC_000011.10:g.8380577del, NC_000011.10:g.8380577dup, NC_000011.10:g.8380576_8380577dup, NC_000011.10:g.8380575_8380577dup, NC_000011.9:g.8402122_8402124del, NC_000011.9:g.8402123_8402124del, NC_000011.9:g.8402124del, NC_000011.9:g.8402124dup, NC_000011.9:g.8402123_8402124dup, NC_000011.9:g.8402122_8402124dup

Select item 14914217958.

rs1491421795 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:8587587 (GRCh38)
11:8609134 (GRCh37)
Canonical SPDI:: NC_000011.10:8587586:TA:
Gene:: STK33 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000011.10:g.8587587_8587588del, NC_000011.9:g.8609134_8609135del

Select item 14914204669.

rs1491420466 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA,TA [Show Flanks]
Chromosome:: 11:8586822 (GRCh38)
11:8608370 (GRCh37)
Canonical SPDI:: NC_000011.10:8586822::CA,NC_000011.10:8586822::TA
Gene:: STK33 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0./0 (ALFA)
HGVS:: NC_000011.10:g.8586822_8586823insCA, NC_000011.10:g.8586822_8586823insTA, NC_000011.9:g.8608369_8608370insCA, NC_000011.9:g.8608369_8608370insTA

Select item 149141052110.

rs1491410521 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>- [Show Flanks]
Chromosome:: 11:8362905 (GRCh38)
11:8384452 (GRCh37)
Canonical SPDI:: NC_000011.10:8362903:CCC:C
Gene:: STK33 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.8362905_8362906del, NC_000011.9:g.8384452_8384453del

Select item 149140739911.

rs1491407399 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:8586822 (GRCh38)
11:8608369 (GRCh37)
Canonical SPDI:: NC_000011.10:8586821:TA:
Gene:: STK33 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.8586822_8586823del, NC_000011.9:g.8608369_8608370del

Select item 149139829912.

rs1491398299 has merged into rs1263167636 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,ATAT,ATATATAT [Show Flanks]
Chromosome:: 11:8553236 (GRCh38)
11:8574783 (GRCh37)
Canonical SPDI:: NC_000011.10:8553230:TATATATATAT:TATAT,NC_000011.10:8553230:TATATATATAT:TATATATAT,NC_000011.10:8553230:TATATATATAT:TATATATATATAT
Gene:: STK33 (Varview), LOC124900315 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATAT=0./0 (ALFA)
-=0.00036/6 (TOMMO)
HGVS:: NC_000011.10:g.8553232AT[2], NC_000011.10:g.8553232AT[4], NC_000011.10:g.8553232AT[6], NC_000011.9:g.8574779AT[2], NC_000011.9:g.8574779AT[4], NC_000011.9:g.8574779AT[6]

Select item 149133598713.

rs1491335987 has merged into rs35914021 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:8584121 (GRCh38)
11:8605668 (GRCh37)
Canonical SPDI:: NC_000011.10:8584110:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:8584110:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:8584110:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:8584110:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:8584110:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:8584110:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:8584110:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:8584110:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:8584110:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:8584110:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:8584110:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8584110:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8584110:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: STK33 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.8584121_8584127del, NC_000011.10:g.8584122_8584127del, NC_000011.10:g.8584123_8584127del, NC_000011.10:g.8584124_8584127del, NC_000011.10:g.8584125_8584127del, NC_000011.10:g.8584126_8584127del, NC_000011.10:g.8584127del, NC_000011.10:g.8584127dup, NC_000011.10:g.8584126_8584127dup, NC_000011.10:g.8584125_8584127dup, NC_000011.10:g.8584124_8584127dup, NC_000011.10:g.8584123_8584127dup, NC_000011.10:g.8584115_8584127dup, NC_000011.9:g.8605668_8605674del, NC_000011.9:g.8605669_8605674del, NC_000011.9:g.8605670_8605674del, NC_000011.9:g.8605671_8605674del, NC_000011.9:g.8605672_8605674del, NC_000011.9:g.8605673_8605674del, NC_000011.9:g.8605674del, NC_000011.9:g.8605674dup, NC_000011.9:g.8605673_8605674dup, NC_000011.9:g.8605672_8605674dup, NC_000011.9:g.8605671_8605674dup, NC_000011.9:g.8605670_8605674dup, NC_000011.9:g.8605662_8605674dup

Select item 149133135414.

rs1491331354 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:8380560 (GRCh38)
11:8402107 (GRCh37)
Canonical SPDI:: NC_000011.10:8380559:CA:
Gene:: STK33 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.8380560_8380561del, NC_000011.9:g.8402107_8402108del

Select item 149132723415.

rs1491327234 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 11:8354472 (GRCh38)
11:8376019 (GRCh37)
Canonical SPDI:: NC_000011.10:8354471:CC:
Gene:: STK33 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.8354472_8354473del, NC_000011.9:g.8376019_8376020del

Select item 149129384716.

rs1491293847 has merged into rs71059163 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 11:8384201 (GRCh38)
11:8405748 (GRCh37)
Canonical SPDI:: NC_000011.10:8384199:TCT:T,NC_000011.10:8384199:TCT:TCTCT
Gene:: STK33 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0.206059/2401 (ALFA)
TC=0.25/10 (GENOME_DK)
TC=0.333667/333 (GoNL)
TC=0.359077/95044 (TOPMED)
TC=0.363333/218 (NorthernSweden)
TC=0.365625/1638 (Estonian)
TC=0.399906/2003 (1000Genomes)
-=0.440088/7375 (TOMMO)
-=0.457547/97 (Vietnamese)
HGVS:: NC_000011.10:g.8384201_8384202del, NC_000011.10:g.8384201_8384202dup, NC_000011.9:g.8405748_8405749del, NC_000011.9:g.8405748_8405749dup

Select item 149128952417.

rs1491289524 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,CCAC,CCACACACACACACACAC,CCACACACACACACACACACACAC [Show Flanks]
Chromosome:: 11:8354472 (GRCh38)
11:8376020 (GRCh37)
Canonical SPDI:: NC_000011.10:8354472:C:CAC,NC_000011.10:8354472:C:CACAC,NC_000011.10:8354472:C:CACACAC,NC_000011.10:8354472:C:CACACACAC,NC_000011.10:8354472:C:CACACACACAC,NC_000011.10:8354472:C:CACACACACACAC,NC_000011.10:8354472:C:CACACACACACACAC,NC_000011.10:8354472:C:CACACACACACACACAC,NC_000011.10:8354472:C:CACACACACACACACACAC,NC_000011.10:8354472:C:CACACACACACACACACACAC,NC_000011.10:8354472:C:CACACACACACACACACACACAC,NC_000011.10:8354472:C:CACACACACACACACACACACACAC,NC_000011.10:8354472:C:CACACACACACACACACACACACACAC,NC_000011.10:8354472:C:CACACACACACACACACACACACACACAC,NC_000011.10:8354472:C:CCCAC,NC_000011.10:8354472:C:CCCACACACACACACACAC,NC_000011.10:8354472:C:CCCACACACACACACACACACACAC
Gene:: STK33 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACAC=0./0 (ALFA)
CACACACACACACACACACACA=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.8354473_8354474insAC, NC_000011.10:g.8354473_8354474insACAC, NC_000011.10:g.8354474AC[3], NC_000011.10:g.8354474AC[4], NC_000011.10:g.8354474AC[5], NC_000011.10:g.8354474AC[6], NC_000011.10:g.8354474AC[7], NC_000011.10:g.8354474AC[8], NC_000011.10:g.8354474AC[9], NC_000011.10:g.8354474AC[10], NC_000011.10:g.8354474AC[11], NC_000011.10:g.8354474AC[12], NC_000011.10:g.8354474AC[13], NC_000011.10:g.8354474AC[14], NC_000011.10:g.8354473_8354474insCCAC, NC_000011.10:g.8354473_8354474insCCACACACACACACACAC, NC_000011.10:g.8354473_8354474insCCACACACACACACACACACACAC, NC_000011.9:g.8376020_8376021insAC, NC_000011.9:g.8376020_8376021insACAC, NC_000011.9:g.8376021AC[3], NC_000011.9:g.8376021AC[4], NC_000011.9:g.8376021AC[5], NC_000011.9:g.8376021AC[6], NC_000011.9:g.8376021AC[7], NC_000011.9:g.8376021AC[8], NC_000011.9:g.8376021AC[9], NC_000011.9:g.8376021AC[10], NC_000011.9:g.8376021AC[11], NC_000011.9:g.8376021AC[12], NC_000011.9:g.8376021AC[13], NC_000011.9:g.8376021AC[14], NC_000011.9:g.8376020_8376021insCCAC, NC_000011.9:g.8376020_8376021insCCACACACACACACACAC, NC_000011.9:g.8376020_8376021insCCACACACACACACACACACACAC

Select item 149128553718.

rs1491285537 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 11:8472256 (GRCh38)
11:8493803 (GRCh37)
Canonical SPDI:: NC_000011.10:8472255:TT:
Gene:: STK33 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000011.10:g.8472256_8472257del, NC_000011.9:g.8493803_8493804del

Select item 149128402719.

rs1491284027 has merged into rs55646106 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACACACAC>-,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 11:8442045 (GRCh38)
11:8463592 (GRCh37)
Canonical SPDI:: NC_000011.10:8442030:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000011.10:8442030:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000011.10:8442030:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000011.10:8442030:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000011.10:8442030:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000011.10:8442030:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000011.10:8442030:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000011.10:8442030:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000011.10:8442030:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000011.10:8442030:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000011.10:8442030:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000011.10:8442030:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000011.10:8442030:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000011.10:8442030:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000011.10:8442030:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000011.10:8442030:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000011.10:8442030:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: STK33 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000011.10:g.8442031AC[7], NC_000011.10:g.8442031AC[10], NC_000011.10:g.8442031AC[11], NC_000011.10:g.8442031AC[12], NC_000011.10:g.8442031AC[13], NC_000011.10:g.8442031AC[14], NC_000011.10:g.8442031AC[15], NC_000011.10:g.8442031AC[16], NC_000011.10:g.8442031AC[17], NC_000011.10:g.8442031AC[18], NC_000011.10:g.8442031AC[20], NC_000011.10:g.8442031AC[21], NC_000011.10:g.8442031AC[22], NC_000011.10:g.8442031AC[23], NC_000011.10:g.8442031AC[24], NC_000011.10:g.8442031AC[25], NC_000011.10:g.8442031AC[27], NC_000011.9:g.8463578AC[7], NC_000011.9:g.8463578AC[10], NC_000011.9:g.8463578AC[11], NC_000011.9:g.8463578AC[12], NC_000011.9:g.8463578AC[13], NC_000011.9:g.8463578AC[14], NC_000011.9:g.8463578AC[15], NC_000011.9:g.8463578AC[16], NC_000011.9:g.8463578AC[17], NC_000011.9:g.8463578AC[18], NC_000011.9:g.8463578AC[20], NC_000011.9:g.8463578AC[21], NC_000011.9:g.8463578AC[22], NC_000011.9:g.8463578AC[23], NC_000011.9:g.8463578AC[24], NC_000011.9:g.8463578AC[25], NC_000011.9:g.8463578AC[27]

Select item 149125749420.

rs1491257494 has merged into rs11330436 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:8434251 (GRCh38)
11:8455798 (GRCh37)
Canonical SPDI:: NC_000011.10:8434246:AAAAAAAAAAAAAAAAAAAA:AAAA,NC_000011.10:8434246:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:8434246:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:8434246:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:8434246:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:8434246:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:8434246:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:8434246:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:8434246:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:8434246:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:8434246:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8434246:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8434246:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8434246:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: STK33 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAA=0./0 (GENOME_DK)
-=0.000004/1 (TOPMED)
AAAA=0.5/1 (ExAC)
HGVS:: NC_000011.10:g.8434251_8434266del, NC_000011.10:g.8434255_8434266del, NC_000011.10:g.8434256_8434266del, NC_000011.10:g.8434259_8434266del, NC_000011.10:g.8434261_8434266del, NC_000011.10:g.8434262_8434266del, NC_000011.10:g.8434263_8434266del, NC_000011.10:g.8434264_8434266del, NC_000011.10:g.8434265_8434266del, NC_000011.10:g.8434266del, NC_000011.10:g.8434266dup, NC_000011.10:g.8434265_8434266dup, NC_000011.10:g.8434264_8434266dup, NC_000011.10:g.8434263_8434266dup, NC_000011.9:g.8455798_8455813del, NC_000011.9:g.8455802_8455813del, NC_000011.9:g.8455803_8455813del, NC_000011.9:g.8455806_8455813del, NC_000011.9:g.8455808_8455813del, NC_000011.9:g.8455809_8455813del, NC_000011.9:g.8455810_8455813del, NC_000011.9:g.8455811_8455813del, NC_000011.9:g.8455812_8455813del, NC_000011.9:g.8455813del, NC_000011.9:g.8455813dup, NC_000011.9:g.8455812_8455813dup, NC_000011.9:g.8455811_8455813dup, NC_000011.9:g.8455810_8455813dup

<< 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