SNP Links for Gene (Select 2998) - SNP

Links from Gene

Items: 1 to 20 of 16222

<< First< Prev

Page of 812

Next >Last >>

Select item 14915034751.

rs1491503475 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:21551023 (GRCh38)
12:21703957 (GRCh37)
Canonical SPDI:: NC_000012.12:21551021:TAT:T
Gene:: GYS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.21551023_21551024del, NC_000012.11:g.21703957_21703958del, NG_016167.1:g.58825_58826del

Select item 14914200982.

rs1491420098 [Homo sapiens]

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

Select item 14914064433.

rs1491406443 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:21546052 (GRCh38)
12:21698986 (GRCh37)
Canonical SPDI:: NC_000012.12:21546050:ACA:A
Gene:: GYS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0013/5 (ALSPAC)
-=0.0016/6 (TWINSUK)
HGVS:: NC_000012.12:g.21546052_21546053del, NC_000012.11:g.21698986_21698987del, NG_016167.1:g.63796_63797del

Select item 14913371104.

rs1491337110 has merged into rs60049724 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:21562708 (GRCh38)
12:21715642 (GRCh37)
Canonical SPDI:: NC_000012.12:21562698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:21562698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:21562698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:21562698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:21562698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:21562698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:21562698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:21562698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:21562698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21562698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21562698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21562698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21562698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21562698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21562698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21562698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21562698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21562698:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GYS2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAA=0.000004/1 (TOPMED)
AAAAA=0.132188/662 (1000Genomes)
HGVS:: NC_000012.12:g.21562708_21562721del, NC_000012.12:g.21562712_21562721del, NC_000012.12:g.21562714_21562721del, NC_000012.12:g.21562715_21562721del, NC_000012.12:g.21562716_21562721del, NC_000012.12:g.21562717_21562721del, NC_000012.12:g.21562718_21562721del, NC_000012.12:g.21562719_21562721del, NC_000012.12:g.21562720_21562721del, NC_000012.12:g.21562721del, NC_000012.12:g.21562721dup, NC_000012.12:g.21562720_21562721dup, NC_000012.12:g.21562719_21562721dup, NC_000012.12:g.21562718_21562721dup, NC_000012.12:g.21562715_21562721dup, NC_000012.12:g.21562709_21562721dup, NC_000012.12:g.21562721_21562722insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.21562699_21562721A[25]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000012.11:g.21715642_21715655del, NC_000012.11:g.21715646_21715655del, NC_000012.11:g.21715648_21715655del, NC_000012.11:g.21715649_21715655del, NC_000012.11:g.21715650_21715655del, NC_000012.11:g.21715651_21715655del, NC_000012.11:g.21715652_21715655del, NC_000012.11:g.21715653_21715655del, NC_000012.11:g.21715654_21715655del, NC_000012.11:g.21715655del, NC_000012.11:g.21715655dup, NC_000012.11:g.21715654_21715655dup, NC_000012.11:g.21715653_21715655dup, NC_000012.11:g.21715652_21715655dup, NC_000012.11:g.21715649_21715655dup, NC_000012.11:g.21715643_21715655dup, NC_000012.11:g.21715655_21715656insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.21715633_21715655A[25]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_016167.1:g.47136_47149del, NG_016167.1:g.47140_47149del, NG_016167.1:g.47142_47149del, NG_016167.1:g.47143_47149del, NG_016167.1:g.47144_47149del, NG_016167.1:g.47145_47149del, NG_016167.1:g.47146_47149del, NG_016167.1:g.47147_47149del, NG_016167.1:g.47148_47149del, NG_016167.1:g.47149del, NG_016167.1:g.47149dup, NG_016167.1:g.47148_47149dup, NG_016167.1:g.47147_47149dup, NG_016167.1:g.47146_47149dup, NG_016167.1:g.47143_47149dup, NG_016167.1:g.47137_47149dup, NG_016167.1:g.47149_47150insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016167.1:g.47127_47149T[29]ATTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14912850665.

rs1491285066 has merged into rs1491210657 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCCC [Show Flanks]
Chromosome:: 12:21550354 (GRCh38)
12:21703288 (GRCh37)
Canonical SPDI:: NC_000012.12:21550351:CCCC:CC,NC_000012.12:21550351:CCCC:CCCCCC
Gene:: GYS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
-=0.01349/52 (ALSPAC)
-=0.0151/56 (TWINSUK)
HGVS:: NC_000012.12:g.21550354_21550355del, NC_000012.12:g.21550354_21550355dup, NC_000012.11:g.21703288_21703289del, NC_000012.11:g.21703288_21703289dup, NG_016167.1:g.59495_59496del, NG_016167.1:g.59495_59496dup

Select item 14912106576.

rs1491210657 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCCC [Show Flanks]
Chromosome:: 12:21550354 (GRCh38)
12:21703288 (GRCh37)
Canonical SPDI:: NC_000012.12:21550351:CCCC:CC,NC_000012.12:21550351:CCCC:CCCCCC
Gene:: GYS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
-=0.01349/52 (ALSPAC)
-=0.0151/56 (TWINSUK)
HGVS:: NC_000012.12:g.21550354_21550355del, NC_000012.12:g.21550354_21550355dup, NC_000012.11:g.21703288_21703289del, NC_000012.11:g.21703288_21703289dup, NG_016167.1:g.59495_59496del, NG_016167.1:g.59495_59496dup

Select item 14911591947.

rs1491159194 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:21541269 (GRCh38)
12:21694204 (GRCh37)
Canonical SPDI:: NC_000012.12:21541269::G
Gene:: GYS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.21541269_21541270insG, NC_000012.11:g.21694203_21694204insG, NG_016167.1:g.68578_68579insC

Select item 14911185748.

rs1491118574 has merged into rs3832848 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:21541278 (GRCh38)
12:21694212 (GRCh37)
Canonical SPDI:: NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:21541268:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GYS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.21541278_21541291del, NC_000012.12:g.21541279_21541291del, NC_000012.12:g.21541280_21541291del, NC_000012.12:g.21541281_21541291del, NC_000012.12:g.21541282_21541291del, NC_000012.12:g.21541286_21541291del, NC_000012.12:g.21541289_21541291del, NC_000012.12:g.21541290_21541291del, NC_000012.12:g.21541291del, NC_000012.12:g.21541291dup, NC_000012.12:g.21541290_21541291dup, NC_000012.12:g.21541289_21541291dup, NC_000012.12:g.21541288_21541291dup, NC_000012.12:g.21541287_21541291dup, NC_000012.12:g.21541286_21541291dup, NC_000012.12:g.21541285_21541291dup, NC_000012.12:g.21541284_21541291dup, NC_000012.12:g.21541283_21541291dup, NC_000012.12:g.21541282_21541291dup, NC_000012.12:g.21541281_21541291dup, NC_000012.12:g.21541280_21541291dup, NC_000012.12:g.21541277_21541291dup, NC_000012.12:g.21541276_21541291dup, NC_000012.12:g.21541272_21541291dup, NC_000012.12:g.21541271_21541291dup, NC_000012.12:g.21541291_21541292insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.21541291_21541292insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.21694212_21694225del, NC_000012.11:g.21694213_21694225del, NC_000012.11:g.21694214_21694225del, NC_000012.11:g.21694215_21694225del, NC_000012.11:g.21694216_21694225del, NC_000012.11:g.21694220_21694225del, NC_000012.11:g.21694223_21694225del, NC_000012.11:g.21694224_21694225del, NC_000012.11:g.21694225del, NC_000012.11:g.21694225dup, NC_000012.11:g.21694224_21694225dup, NC_000012.11:g.21694223_21694225dup, NC_000012.11:g.21694222_21694225dup, NC_000012.11:g.21694221_21694225dup, NC_000012.11:g.21694220_21694225dup, NC_000012.11:g.21694219_21694225dup, NC_000012.11:g.21694218_21694225dup, NC_000012.11:g.21694217_21694225dup, NC_000012.11:g.21694216_21694225dup, NC_000012.11:g.21694215_21694225dup, NC_000012.11:g.21694214_21694225dup, NC_000012.11:g.21694211_21694225dup, NC_000012.11:g.21694210_21694225dup, NC_000012.11:g.21694206_21694225dup, NC_000012.11:g.21694205_21694225dup, NC_000012.11:g.21694225_21694226insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.21694225_21694226insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016167.1:g.68566_68579del, NG_016167.1:g.68567_68579del, NG_016167.1:g.68568_68579del, NG_016167.1:g.68569_68579del, NG_016167.1:g.68570_68579del, NG_016167.1:g.68574_68579del, NG_016167.1:g.68577_68579del, NG_016167.1:g.68578_68579del, NG_016167.1:g.68579del, NG_016167.1:g.68579dup, NG_016167.1:g.68578_68579dup, NG_016167.1:g.68577_68579dup, NG_016167.1:g.68576_68579dup, NG_016167.1:g.68575_68579dup, NG_016167.1:g.68574_68579dup, NG_016167.1:g.68573_68579dup, NG_016167.1:g.68572_68579dup, NG_016167.1:g.68571_68579dup, NG_016167.1:g.68570_68579dup, NG_016167.1:g.68569_68579dup, NG_016167.1:g.68568_68579dup, NG_016167.1:g.68565_68579dup, NG_016167.1:g.68564_68579dup, NG_016167.1:g.68560_68579dup, NG_016167.1:g.68559_68579dup, NG_016167.1:g.68579_68580insTTTTTTTTTTTTTTTTTTTTTTTT, NG_016167.1:g.68579_68580insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910356429.

rs1491035642 has merged into rs112659560 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTCTC>-,TC,TCTC,TCTCTCTC,TCTCTCTCTC,TCTCTCTCTCTC [Show Flanks]
Chromosome:: 12:21599082 (GRCh38)
12:21752016 (GRCh37)
Canonical SPDI:: NC_000012.12:21599070:CTCTCTCTCTCTCTCTC:CTCTCTCTCTC,NC_000012.12:21599070:CTCTCTCTCTCTCTCTC:CTCTCTCTCTCTC,NC_000012.12:21599070:CTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTC,NC_000012.12:21599070:CTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTC,NC_000012.12:21599070:CTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTC,NC_000012.12:21599070:CTCTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTCTCTCTC
Gene:: GYS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCTCTCTCTC=0./0 (ALFA)
-=0.0083/5 (NorthernSweden)
-=0.075/3 (GENOME_DK)
-=0.109/546 (1000Genomes)
-=0.1613/161 (GoNL)
HGVS:: NC_000012.12:g.21599072TC[5], NC_000012.12:g.21599072TC[6], NC_000012.12:g.21599072TC[7], NC_000012.12:g.21599072TC[9], NC_000012.12:g.21599072TC[10], NC_000012.12:g.21599072TC[11], NC_000012.11:g.21752006TC[5], NC_000012.11:g.21752006TC[6], NC_000012.11:g.21752006TC[7], NC_000012.11:g.21752006TC[9], NC_000012.11:g.21752006TC[10], NC_000012.11:g.21752006TC[11], NG_016167.1:g.10762AG[5], NG_016167.1:g.10762AG[6], NG_016167.1:g.10762AG[7], NG_016167.1:g.10762AG[9], NG_016167.1:g.10762AG[10], NG_016167.1:g.10762AG[11]

Select item 149091444010.

rs1490914440 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:21550588 (GRCh38)
12:21703522 (GRCh37)
Canonical SPDI:: NC_000012.12:21550587:T:C
Gene:: GYS2 (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=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.21550588T>C, NC_000012.11:g.21703522T>C, NG_016167.1:g.59260A>G

Select item 149087130011.

rs1490871300 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 12:21565973 (GRCh38)
12:21718907 (GRCh37)
Canonical SPDI:: NC_000012.12:21565972:TTTTTTT:TTTTTT,NC_000012.12:21565972:TTTTTTT:TTTTTTTT
Gene:: GYS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.21565979del, NC_000012.12:g.21565979dup, NC_000012.11:g.21718913del, NC_000012.11:g.21718913dup, NG_016167.1:g.43875del, NG_016167.1:g.43875dup

Select item 149086336512.

rs1490863365 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:21551108 (GRCh38)
12:21704042 (GRCh37)
Canonical SPDI:: NC_000012.12:21551107:C:G
Gene:: GYS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.21551108C>G, NC_000012.11:g.21704042C>G, NG_016167.1:g.58740G>C

Select item 149083320313.

rs1490833203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:21598255 (GRCh38)
12:21751189 (GRCh37)
Canonical SPDI:: NC_000012.12:21598254:A:G
Gene:: GYS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.21598255A>G, NC_000012.11:g.21751189A>G, NG_016167.1:g.11593T>C

Select item 149073933914.

rs1490739339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:21590797 (GRCh38)
12:21743731 (GRCh37)
Canonical SPDI:: NC_000012.12:21590796:C:G,NC_000012.12:21590796:C:T
Gene:: GYS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.21590797C>G, NC_000012.12:g.21590797C>T, NC_000012.11:g.21743731C>G, NC_000012.11:g.21743731C>T, NG_016167.1:g.19051G>C, NG_016167.1:g.19051G>A

Select item 149071811915.

rs1490718119 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:21603617 (GRCh38)
12:21756551 (GRCh37)
Canonical SPDI:: NC_000012.12:21603616:A:G
Gene:: GYS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.21603617A>G, NC_000012.11:g.21756551A>G, NG_016167.1:g.6231T>C

Select item 149071334916.

rs1490713349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:21602351 (GRCh38)
12:21755285 (GRCh37)
Canonical SPDI:: NC_000012.12:21602350:A:G
Gene:: GYS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.21602351A>G, NC_000012.11:g.21755285A>G, NG_016167.1:g.7497T>C

Select item 149067959417.

rs1490679594 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:21587753 (GRCh38)
12:21740687 (GRCh37)
Canonical SPDI:: NC_000012.12:21587752:T:C
Gene:: GYS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000034/9 (TOPMED)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.21587753T>C, NC_000012.11:g.21740687T>C, NG_016167.1:g.22095A>G

Select item 149057562818.

rs1490575628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:21590025 (GRCh38)
12:21742959 (GRCh37)
Canonical SPDI:: NC_000012.12:21590024:C:T
Gene:: GYS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.21590025C>T, NC_000012.11:g.21742959C>T, NG_016167.1:g.19823G>A

Select item 149055681919.

rs1490556819 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:21604245 (GRCh38)
12:21757179 (GRCh37)
Canonical SPDI:: NC_000012.12:21604244:T:G
Gene:: GYS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.21604245T>G, NC_000012.11:g.21757179T>G, NG_016167.1:g.5603A>C

Select item 149051330720.

rs1490513307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:21596519 (GRCh38)
12:21749453 (GRCh37)
Canonical SPDI:: NC_000012.12:21596518:T:C,NC_000012.12:21596518:T:G
Gene:: GYS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.21596519T>C, NC_000012.12:g.21596519T>G, NC_000012.11:g.21749453T>C, NC_000012.11:g.21749453T>G, NG_016167.1:g.13329A>G, NG_016167.1:g.13329A>C

<< First< Prev

Page of 812

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 16222

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity