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Select item 14915533481.

rs1491553348 has merged into rs375324802 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTCTTTTTTTTTTTTTT,TTTTCTTTTTTTTTTTTTTT,TTTTCTTTTTTTTTTTTTTTTTT,TTTTCTTTTTTTTTTTTTTTTTTT,TTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTGTTTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:109755225 (GRCh38)
13:110407572 (GRCh37)
Canonical SPDI:: NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTCTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTCTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:109755214:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT
Gene:: IRS2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000013.11:g.109755225_109755226del, NC_000013.11:g.109755226del, NC_000013.11:g.109755226dup, NC_000013.11:g.109755225_109755226dup, NC_000013.11:g.109755215_109755226T[14]CTTTTTTTTTTTTTT[1], NC_000013.11:g.109755215_109755226T[14]CTTTTTTTTTTTTTTT[1], NC_000013.11:g.109755215_109755226T[14]CTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.109755215_109755226T[14]CTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.109755215_109755226T[14]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.109755224_109755226dup, NC_000013.11:g.109755223_109755226dup, NC_000013.11:g.109755222_109755226dup, NC_000013.11:g.109755221_109755226dup, NC_000013.11:g.109755220_109755226dup, NC_000013.11:g.109755219_109755226dup, NC_000013.11:g.109755215_109755226T[20]GTTTTTTTTTTTT[1], NC_000013.11:g.109755218_109755226dup, NC_000013.11:g.109755217_109755226dup, NC_000013.11:g.109755216_109755226dup, NC_000013.11:g.109755215_109755226dup, NC_000013.11:g.109755226_109755227insTTTTTTTTTTTTT, NC_000013.11:g.109755226_109755227insTTTTTTTTTTTTTT, NC_000013.11:g.109755226_109755227insTTTTTTTTTTTTTTT, NC_000013.11:g.109755226_109755227insTTTTTTTTTTTTTTTT, NC_000013.11:g.109755226_109755227insTTTTTTTTTTTTTTTTT, NC_000013.11:g.109755226_109755227insTTTTTTTTTTTTTTTTTT, NC_000013.11:g.109755226_109755227insTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.109755226_109755227insTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.109755226_109755227insTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.109755226_109755227insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.109755226_109755227insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.109755226_109755227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.109755215_109755226T[41]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.110407572_110407573del, NC_000013.10:g.110407573del, NC_000013.10:g.110407573dup, NC_000013.10:g.110407572_110407573dup, NC_000013.10:g.110407562_110407573T[14]CTTTTTTTTTTTTTT[1], NC_000013.10:g.110407562_110407573T[14]CTTTTTTTTTTTTTTT[1], NC_000013.10:g.110407562_110407573T[14]CTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.110407562_110407573T[14]CTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.110407562_110407573T[14]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.110407571_110407573dup, NC_000013.10:g.110407570_110407573dup, NC_000013.10:g.110407569_110407573dup, NC_000013.10:g.110407568_110407573dup, NC_000013.10:g.110407567_110407573dup, NC_000013.10:g.110407566_110407573dup, NC_000013.10:g.110407562_110407573T[20]GTTTTTTTTTTTT[1], NC_000013.10:g.110407565_110407573dup, NC_000013.10:g.110407564_110407573dup, NC_000013.10:g.110407563_110407573dup, NC_000013.10:g.110407562_110407573dup, NC_000013.10:g.110407573_110407574insTTTTTTTTTTTTT, NC_000013.10:g.110407573_110407574insTTTTTTTTTTTTTT, NC_000013.10:g.110407573_110407574insTTTTTTTTTTTTTTT, NC_000013.10:g.110407573_110407574insTTTTTTTTTTTTTTTT, NC_000013.10:g.110407573_110407574insTTTTTTTTTTTTTTTTT, NC_000013.10:g.110407573_110407574insTTTTTTTTTTTTTTTTTT, NC_000013.10:g.110407573_110407574insTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.110407573_110407574insTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.110407573_110407574insTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.110407573_110407574insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.110407573_110407574insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.110407573_110407574insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.110407562_110407573T[41]CTTTTTTTTTTTTTTTTTTTTT[1], NG_008154.1:g.36352_36353del, NG_008154.1:g.36353del, NG_008154.1:g.36353dup, NG_008154.1:g.36352_36353dup, NG_008154.1:g.36342_36353A[14]GAAAAAAAAAAAAAA[1], NG_008154.1:g.36342_36353A[15]GAAAAAAAAAAAAAA[1], NG_008154.1:g.36342_36353A[18]GAAAAAAAAAAAAAA[1], NG_008154.1:g.36342_36353A[19]GAAAAAAAAAAAAAA[1], NG_008154.1:g.36342_36353A[21]GAAAAAAAAAAAAAA[1], NG_008154.1:g.36351_36353dup, NG_008154.1:g.36350_36353dup, NG_008154.1:g.36349_36353dup, NG_008154.1:g.36348_36353dup, NG_008154.1:g.36347_36353dup, NG_008154.1:g.36346_36353dup, NG_008154.1:g.36342_36353A[12]CAAAAAAAAAAAAAAAAAAAA[1], NG_008154.1:g.36345_36353dup, NG_008154.1:g.36344_36353dup, NG_008154.1:g.36343_36353dup, NG_008154.1:g.36342_36353dup, NG_008154.1:g.36353_36354insAAAAAAAAAAAAA, NG_008154.1:g.36353_36354insAAAAAAAAAAAAAA, NG_008154.1:g.36353_36354insAAAAAAAAAAAAAAA, NG_008154.1:g.36353_36354insAAAAAAAAAAAAAAAA, NG_008154.1:g.36353_36354insAAAAAAAAAAAAAAAAA, NG_008154.1:g.36353_36354insAAAAAAAAAAAAAAAAAA, NG_008154.1:g.36353_36354insAAAAAAAAAAAAAAAAAAA, NG_008154.1:g.36353_36354insAAAAAAAAAAAAAAAAAAAAA, NG_008154.1:g.36353_36354insAAAAAAAAAAAAAAAAAAAAAA, NG_008154.1:g.36353_36354insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008154.1:g.36353_36354insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008154.1:g.36353_36354insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008154.1:g.36342_36353A[21]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_003749.3:c.*1088_*1089del, NM_003749.3:c.*1089del, NM_003749.3:c.*1089dup, NM_003749.3:c.*1088_*1089dup, NM_003749.3:c.*1078_*1089A[14]GAAAAAAAAAAAAAA[1], NM_003749.3:c.*1078_*1089A[15]GAAAAAAAAAAAAAA[1], NM_003749.3:c.*1078_*1089A[18]GAAAAAAAAAAAAAA[1], NM_003749.3:c.*1078_*1089A[19]GAAAAAAAAAAAAAA[1], NM_003749.3:c.*1078_*1089A[21]GAAAAAAAAAAAAAA[1], NM_003749.3:c.*1087_*1089dup, NM_003749.3:c.*1086_*1089dup, NM_003749.3:c.*1085_*1089dup, NM_003749.3:c.*1084_*1089dup, NM_003749.3:c.*1083_*1089dup, NM_003749.3:c.*1082_*1089dup, NM_003749.3:c.*1078_*1089A[12]CAAAAAAAAAAAAAAAAAAAA[1], NM_003749.3:c.*1081_*1089dup, NM_003749.3:c.*1080_*1089dup, NM_003749.3:c.*1079_*1089dup, NM_003749.3:c.*1078_*1089dup, NM_003749.3:c.*1089_*1090insAAAAAAAAAAAAA, NM_003749.3:c.*1089_*1090insAAAAAAAAAAAAAA, NM_003749.3:c.*1089_*1090insAAAAAAAAAAAAAAA, NM_003749.3:c.*1089_*1090insAAAAAAAAAAAAAAAA, NM_003749.3:c.*1089_*1090insAAAAAAAAAAAAAAAAA, NM_003749.3:c.*1089_*1090insAAAAAAAAAAAAAAAAAA, NM_003749.3:c.*1089_*1090insAAAAAAAAAAAAAAAAAAA, NM_003749.3:c.*1089_*1090insAAAAAAAAAAAAAAAAAAAAA, NM_003749.3:c.*1089_*1090insAAAAAAAAAAAAAAAAAAAAAA, NM_003749.3:c.*1089_*1090insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_003749.3:c.*1089_*1090insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_003749.3:c.*1089_*1090insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_003749.3:c.*1078_*1089A[21]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_003749.2:c.*1088_*1089del, NM_003749.2:c.*1089del, NM_003749.2:c.*1089dup, NM_003749.2:c.*1088_*1089dup, NM_003749.2:c.*1078_*1089A[14]GAAAAAAAAAAAAAA[1], NM_003749.2:c.*1078_*1089A[15]GAAAAAAAAAAAAAA[1], NM_003749.2:c.*1078_*1089A[18]GAAAAAAAAAAAAAA[1], NM_003749.2:c.*1078_*1089A[19]GAAAAAAAAAAAAAA[1], NM_003749.2:c.*1078_*1089A[21]GAAAAAAAAAAAAAA[1], NM_003749.2:c.*1087_*1089dup, NM_003749.2:c.*1086_*1089dup, NM_003749.2:c.*1085_*1089dup, NM_003749.2:c.*1084_*1089dup, NM_003749.2:c.*1083_*1089dup, NM_003749.2:c.*1082_*1089dup, NM_003749.2:c.*1078_*1089A[12]CAAAAAAAAAAAAAAAAAAAA[1], NM_003749.2:c.*1081_*1089dup, NM_003749.2:c.*1080_*1089dup, NM_003749.2:c.*1079_*1089dup, NM_003749.2:c.*1078_*1089dup, NM_003749.2:c.*1089_*1090insAAAAAAAAAAAAA, NM_003749.2:c.*1089_*1090insAAAAAAAAAAAAAA, NM_003749.2:c.*1089_*1090insAAAAAAAAAAAAAAA, NM_003749.2:c.*1089_*1090insAAAAAAAAAAAAAAAA, NM_003749.2:c.*1089_*1090insAAAAAAAAAAAAAAAAA, NM_003749.2:c.*1089_*1090insAAAAAAAAAAAAAAAAAA, NM_003749.2:c.*1089_*1090insAAAAAAAAAAAAAAAAAAA, NM_003749.2:c.*1089_*1090insAAAAAAAAAAAAAAAAAAAAA, NM_003749.2:c.*1089_*1090insAAAAAAAAAAAAAAAAAAAAAA, NM_003749.2:c.*1089_*1090insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_003749.2:c.*1089_*1090insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_003749.2:c.*1089_*1090insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_003749.2:c.*1078_*1089A[21]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14914554722.

rs1491455472 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC [Show Flanks]
Chromosome:: 13:109775798 (GRCh38)
13:110428146 (GRCh37)
Canonical SPDI:: NC_000013.11:109775798:CC:CCCC
Gene:: IRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0./0 (ALFA)
CC=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.109775799_109775800dup, NC_000013.10:g.110428146_110428147dup, NG_008154.1:g.15768_15769dup

Select item 14913208133.

rs1491320813 has merged into rs77976091 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 13:109788486 (GRCh38)
13:110440833 (GRCh37)
Canonical SPDI:: NC_000013.11:109788484:ATA:A
Gene:: IRS2 (Varview), LOC124903211 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.109788486_109788487del, NC_000013.10:g.110440833_110440834del, NG_008154.1:g.3082_3083del, XM_047430835.1:c.*649_*650del

Select item 14912504274.

rs1491250427 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCACACAC [Show Flanks]
Chromosome:: 13:109775754 (GRCh38)
13:110428102 (GRCh37)
Canonical SPDI:: NC_000013.11:109775754:CACACAC:CACACACCCACACAC
Gene:: IRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACACACCCACACAC=0./0 (ALFA)
CACACACC=0.00545/5 (GnomAD)
HGVS:: NC_000013.11:g.109775755_109775761CA[3]CCCACACAC[1], NC_000013.10:g.110428102_110428108CA[3]CCCACACAC[1], NG_008154.1:g.15807_15813GT[3]GGGTGTGTG[1]

Select item 14910853765.

rs1491085376 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 13:109775117 (GRCh38)
13:110427465 (GRCh37)
Canonical SPDI:: NC_000013.11:109775117::C
Gene:: IRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00143/17 (ALFA)
C=0.00365/233 (GnomAD)
HGVS:: NC_000013.11:g.109775117_109775118insC, NC_000013.10:g.110427464_110427465insC, NG_008154.1:g.16450_16451insG

Select item 14910843606.

rs1491084360 has merged into rs3049004 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 13:109758839 (GRCh38)
13:110411186 (GRCh37)
Canonical SPDI:: NC_000013.11:109758829:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:109758829:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:109758829:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:109758829:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:109758829:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:109758829:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:109758829:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:109758829:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:109758829:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:109758829:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:109758829:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: IRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AA=0.4/16 (GENOME_DK)
HGVS:: NC_000013.11:g.109758839_109758846del, NC_000013.11:g.109758840_109758846del, NC_000013.11:g.109758841_109758846del, NC_000013.11:g.109758842_109758846del, NC_000013.11:g.109758843_109758846del, NC_000013.11:g.109758844_109758846del, NC_000013.11:g.109758845_109758846del, NC_000013.11:g.109758846del, NC_000013.11:g.109758846dup, NC_000013.11:g.109758845_109758846dup, NC_000013.11:g.109758844_109758846dup, NC_000013.10:g.110411186_110411193del, NC_000013.10:g.110411187_110411193del, NC_000013.10:g.110411188_110411193del, NC_000013.10:g.110411189_110411193del, NC_000013.10:g.110411190_110411193del, NC_000013.10:g.110411191_110411193del, NC_000013.10:g.110411192_110411193del, NC_000013.10:g.110411193del, NC_000013.10:g.110411193dup, NC_000013.10:g.110411192_110411193dup, NC_000013.10:g.110411191_110411193dup, NG_008154.1:g.32731_32738del, NG_008154.1:g.32732_32738del, NG_008154.1:g.32733_32738del, NG_008154.1:g.32734_32738del, NG_008154.1:g.32735_32738del, NG_008154.1:g.32736_32738del, NG_008154.1:g.32737_32738del, NG_008154.1:g.32738del, NG_008154.1:g.32738dup, NG_008154.1:g.32737_32738dup, NG_008154.1:g.32736_32738dup

Select item 14910182657.

rs1491018265 has merged into rs34886741 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:109772703 (GRCh38)
13:110425050 (GRCh37)
Canonical SPDI:: NC_000013.11:109772688:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:109772688:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:109772688:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:109772688:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:109772688:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:109772688:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:109772688:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:109772688:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:109772688:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:109772688:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:109772688:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: IRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000013.11:g.109772703_109772706del, NC_000013.11:g.109772704_109772706del, NC_000013.11:g.109772705_109772706del, NC_000013.11:g.109772706del, NC_000013.11:g.109772706dup, NC_000013.11:g.109772705_109772706dup, NC_000013.11:g.109772704_109772706dup, NC_000013.11:g.109772703_109772706dup, NC_000013.11:g.109772702_109772706dup, NC_000013.11:g.109772700_109772706dup, NC_000013.11:g.109772698_109772706dup, NC_000013.10:g.110425050_110425053del, NC_000013.10:g.110425051_110425053del, NC_000013.10:g.110425052_110425053del, NC_000013.10:g.110425053del, NC_000013.10:g.110425053dup, NC_000013.10:g.110425052_110425053dup, NC_000013.10:g.110425051_110425053dup, NC_000013.10:g.110425050_110425053dup, NC_000013.10:g.110425049_110425053dup, NC_000013.10:g.110425047_110425053dup, NC_000013.10:g.110425045_110425053dup, NG_008154.1:g.18876_18879del, NG_008154.1:g.18877_18879del, NG_008154.1:g.18878_18879del, NG_008154.1:g.18879del, NG_008154.1:g.18879dup, NG_008154.1:g.18878_18879dup, NG_008154.1:g.18877_18879dup, NG_008154.1:g.18876_18879dup, NG_008154.1:g.18875_18879dup, NG_008154.1:g.18873_18879dup, NG_008154.1:g.18871_18879dup

Select item 14909197768.

rs1490919776 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>T
Chromosome:: no mapping
Canonical SPDI:

Select item 14908477099.

rs1490847709 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:109783806 (GRCh38)
13:110436153 (GRCh37)
Canonical SPDI:: NC_000013.11:109783805:T:G
Gene:: IRS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000013.11:g.109783806T>G, NC_000013.10:g.110436153T>G, NG_008154.1:g.7762A>C, NM_003749.3:c.2248A>C, NM_003749.2:c.2248A>C, NP_003740.2:p.Lys750Gln

Select item 149081379810.

rs1490813798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:109786593 (GRCh38)
13:110438940 (GRCh37)
Canonical SPDI:: NC_000013.11:109786592:A:G
Gene:: IRS2 (Varview), LOC124903211 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000013.11:g.109786593A>G, NC_000013.10:g.110438940A>G, NG_008154.1:g.4975T>C

Select item 149074604411.

rs1490746044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:109780221 (GRCh38)
13:110432568 (GRCh37)
Canonical SPDI:: NC_000013.11:109780220:C:T
Gene:: IRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.109780221C>T, NC_000013.10:g.110432568C>T, NG_008154.1:g.11347G>A

Select item 149069222412.

rs1490692224 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:109765252 (GRCh38)
13:110417599 (GRCh37)
Canonical SPDI:: NC_000013.11:109765251:T:G
Gene:: IRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.109765252T>G, NC_000013.10:g.110417599T>G, NG_008154.1:g.26316A>C

Select item 149054016713.

rs1490540167 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 13:109786253 (GRCh38)
13:110438600 (GRCh37)
Canonical SPDI:: NC_000013.11:109786252:C:A,NC_000013.11:109786252:C:G
Gene:: IRS2 (Varview), LOC124903211 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.109786253C>A, NC_000013.11:g.109786253C>G, NC_000013.10:g.110438600C>A, NC_000013.10:g.110438600C>G, NG_008154.1:g.5315G>T, NG_008154.1:g.5315G>C, NM_003749.3:c.-200G>T, NM_003749.3:c.-200G>C, NM_003749.2:c.-200G>T, NM_003749.2:c.-200G>C

Select item 149047120514.

rs1490471205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:109780874 (GRCh38)
13:110433221 (GRCh37)
Canonical SPDI:: NC_000013.11:109780873:C:T
Gene:: IRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000064/9 (GnomAD)
HGVS:: NC_000013.11:g.109780874C>T, NC_000013.10:g.110433221C>T, NG_008154.1:g.10694G>A

Select item 149029636715.

rs1490296367 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:109759895 (GRCh38)
13:110412242 (GRCh37)
Canonical SPDI:: NC_000013.11:109759894:A:G
Gene:: IRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000389/7 (TOMMO)
G=0.001027/3 (KOREAN)
HGVS:: NC_000013.11:g.109759895A>G, NC_000013.10:g.110412242A>G, NG_008154.1:g.31673T>C

Select item 149027129616.

rs1490271296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:109758924 (GRCh38)
13:110411271 (GRCh37)
Canonical SPDI:: NC_000013.11:109758923:G:A
Gene:: IRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.003422/10 (KOREAN)
G=0.375/3 (SGDP_PRJ)
HGVS:: NC_000013.11:g.109758924G>A, NC_000013.10:g.110411271G>A, NG_008154.1:g.32644C>T

Select item 149026254217.

rs1490262542 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:109787086 (GRCh38)
13:110439433 (GRCh37)
Canonical SPDI:: NC_000013.11:109787085:T:A
Gene:: IRS2 (Varview), LOC124903211 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.109787086T>A, NC_000013.10:g.110439433T>A, NG_008154.1:g.4482A>T, XM_047430835.1:c.-7T>A

Select item 149021301218.

rs1490213012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:109775158 (GRCh38)
13:110427505 (GRCh37)
Canonical SPDI:: NC_000013.11:109775157:G:T
Gene:: IRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00194/23 (ALFA)
T=0.00014/4 (TOMMO)
T=0.02635/77 (KOREAN)
HGVS:: NC_000013.11:g.109775158G>T, NC_000013.10:g.110427505G>T, NG_008154.1:g.16410C>A

Select item 149013875119.

rs1490138751 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 13:109784064 (GRCh38)
13:110436411 (GRCh37)
Canonical SPDI:: NC_000013.11:109784063:C:G,NC_000013.11:109784063:C:T
Gene:: IRS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.109784064C>G, NC_000013.11:g.109784064C>T, NC_000013.10:g.110436411C>G, NC_000013.10:g.110436411C>T, NG_008154.1:g.7504G>C, NG_008154.1:g.7504G>A, NM_003749.3:c.1990G>C, NM_003749.3:c.1990G>A, NM_003749.2:c.1990G>C, NM_003749.2:c.1990G>A, NP_003740.2:p.Gly664Arg, NP_003740.2:p.Gly664Ser

Select item 149010523920.

rs1490105239 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 13:109781756 (GRCh38)
13:110434104 (GRCh37)
Canonical SPDI:: NC_000013.11:109781756:A:AA
Gene:: IRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.109781757dup, NC_000013.10:g.110434104dup, NG_008154.1:g.9811dup

dbSNP

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