SNP Links for Protein (Select 109148522) - SNP

Links from Protein

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Select item 14809964981.

rs1480996498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2147624 (GRCh38)
11:2168854 (GRCh37)
Canonical SPDI:: NC_000011.10:2147623:G:A
Gene:: IGF2 (Varview), IGF2-AS (Varview), INS-IGF2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_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_000011.10:g.2147624G>A, NC_000011.9:g.2168854G>A, NG_050578.1:g.18586C>T, NR_003512.4:n.650C>T, NR_003512.3:n.650C>T, NM_001042376.3:c.591C>T, NM_001042376.2:c.591C>T, NG_008849.1:g.6980C>T, NM_001007139.6:c.-65C>T, NM_001007139.5:c.-65C>T, NM_001007139.4:c.-65C>T, NM_016412.2:c.*387G>A, NR_028043.2:n.1026G>A, NR_028043.1:n.1010G>A, NM_001042377.1:c.591C>T, NR_028044.1:n.1800G>A, NR_133657.1:n.915G>A, NM_016412.1:c.*177G>A

Select item 14803170382.

rs1480317038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:2149203 (GRCh38)
11:2170433 (GRCh37)
Canonical SPDI:: NC_000011.10:2149202:G:C
Gene:: IGF2 (Varview), INS-IGF2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_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_000011.10:g.2149203G>C, NC_000011.9:g.2170433G>C, NG_050578.1:g.17007C>G, NR_003512.4:n.389C>G, NR_003512.3:n.389C>G, NM_001042376.3:c.330C>G, NM_001042376.2:c.330C>G, NG_008849.1:g.5401C>G, NM_001007139.6:c.-326C>G, NM_001007139.5:c.-326C>G, NM_001007139.4:c.-326C>G, NM_001042377.1:c.330C>G

Select item 14752637283.

rs1475263728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:2147791 (GRCh38)
11:2169021 (GRCh37)
Canonical SPDI:: NC_000011.10:2147790:T:C
Gene:: IGF2 (Varview), IGF2-AS (Varview), INS-IGF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: C=0.00004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.2147791T>C, NC_000011.9:g.2169021T>C, NG_050578.1:g.18419A>G, NR_003512.4:n.483A>G, NR_003512.3:n.483A>G, NM_001042376.3:c.424A>G, NM_001042376.2:c.424A>G, NG_008849.1:g.6813A>G, NM_001007139.6:c.-232A>G, NM_001007139.5:c.-232A>G, NM_001007139.4:c.-232A>G, NM_016412.2:c.*554T>C, NR_028043.2:n.1193T>C, NR_028043.1:n.1177T>C, NM_001042377.1:c.424A>G, NR_028044.1:n.1967T>C, NR_133657.1:n.1082T>C, NM_016412.1:c.*343T>C, NP_001035835.1:p.Thr142Ala

Select item 14750073724.

rs1475007372 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:2149131 (GRCh38)
11:2170361 (GRCh37)
Canonical SPDI:: NC_000011.10:2149130:C:A
Gene:: IGF2 (Varview), IGF2-AS (Varview), INS-IGF2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.2149131C>A, NC_000011.9:g.2170361C>A, NG_050578.1:g.17079G>T, NR_003512.4:n.461G>T, NR_003512.3:n.461G>T, NM_001042376.3:c.402G>T, NM_001042376.2:c.402G>T, NG_008849.1:g.5473G>T, NM_001007139.6:c.-254G>T, NM_001007139.5:c.-254G>T, NM_001007139.4:c.-254G>T, NM_001042377.1:c.402G>T, NP_001035835.1:p.Glu134Asp

Select item 14699736985.

rs1469973698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:2147655 (GRCh38)
11:2168885 (GRCh37)
Canonical SPDI:: NC_000011.10:2147654:C:A
Gene:: IGF2 (Varview), IGF2-AS (Varview), INS-IGF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2147655C>A, NC_000011.9:g.2168885C>A, NG_050578.1:g.18555G>T, NR_003512.4:n.619G>T, NR_003512.3:n.619G>T, NM_001042376.3:c.560G>T, NM_001042376.2:c.560G>T, NG_008849.1:g.6949G>T, NM_001007139.6:c.-96G>T, NM_001007139.5:c.-96G>T, NM_001007139.4:c.-96G>T, NM_016412.2:c.*418C>A, NR_028043.2:n.1057C>A, NR_028043.1:n.1041C>A, NM_001042377.1:c.560G>T, NR_028044.1:n.1831C>A, NR_133657.1:n.946C>A, NM_016412.1:c.*207C>A, NP_001035835.1:p.Cys187Phe

Select item 14692946456.

rs1469294645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2147635 (GRCh38)
11:2168865 (GRCh37)
Canonical SPDI:: NC_000011.10:2147634:G:A
Gene:: IGF2 (Varview), IGF2-AS (Varview), INS-IGF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000051/1 (GnomAD_exomes)
A=0.000177/3 (TOMMO)
HGVS:: NC_000011.10:g.2147635G>A, NC_000011.9:g.2168865G>A, NG_050578.1:g.18575C>T, NR_003512.4:n.639C>T, NR_003512.3:n.639C>T, NM_001042376.3:c.580C>T, NM_001042376.2:c.580C>T, NG_008849.1:g.6969C>T, NM_001007139.6:c.-76C>T, NM_001007139.5:c.-76C>T, NM_001007139.4:c.-76C>T, NM_016412.2:c.*398G>A, NR_028043.2:n.1037G>A, NR_028043.1:n.1021G>A, NM_001042377.1:c.580C>T, NR_028044.1:n.1811G>A, NR_133657.1:n.926G>A, NM_016412.1:c.*188G>A, NP_001035835.1:p.Arg194Ter

Select item 14632782267.

rs1463278226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:2147706 (GRCh38)
11:2168936 (GRCh37)
Canonical SPDI:: NC_000011.10:2147705:G:A,NC_000011.10:2147705:G:T
Gene:: IGF2 (Varview), IGF2-AS (Varview), INS-IGF2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_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_000011.10:g.2147706G>A, NC_000011.10:g.2147706G>T, NC_000011.9:g.2168936G>A, NC_000011.9:g.2168936G>T, NG_050578.1:g.18504C>T, NG_050578.1:g.18504C>A, NR_003512.4:n.568C>T, NR_003512.4:n.568C>A, NR_003512.3:n.568C>T, NR_003512.3:n.568C>A, NM_001042376.3:c.509C>T, NM_001042376.3:c.509C>A, NM_001042376.2:c.509C>T, NM_001042376.2:c.509C>A, NG_008849.1:g.6898C>T, NG_008849.1:g.6898C>A, NM_001007139.6:c.-147C>T, NM_001007139.6:c.-147C>A, NM_001007139.5:c.-147C>T, NM_001007139.5:c.-147C>A, NM_001007139.4:c.-147C>T, NM_001007139.4:c.-147C>A, NM_016412.2:c.*469G>A, NM_016412.2:c.*469G>T, NR_028043.2:n.1108G>A, NR_028043.2:n.1108G>T, NR_028043.1:n.1092G>A, NR_028043.1:n.1092G>T, NM_001042377.1:c.509C>T, NM_001042377.1:c.509C>A, NR_028044.1:n.1882G>A, NR_028044.1:n.1882G>T, NR_133657.1:n.997G>A, NR_133657.1:n.997G>T, NM_016412.1:c.*258G>A, NM_016412.1:c.*258G>T, NP_001035835.1:p.Ala170Val, NP_001035835.1:p.Ala170Asp

Select item 14618381108.

rs1461838110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:2147718 (GRCh38)
11:2168948 (GRCh37)
Canonical SPDI:: NC_000011.10:2147717:G:C
Gene:: IGF2 (Varview), IGF2-AS (Varview), INS-IGF2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.2147718G>C, NC_000011.9:g.2168948G>C, NG_050578.1:g.18492C>G, NR_003512.4:n.556C>G, NR_003512.3:n.556C>G, NM_001042376.3:c.497C>G, NM_001042376.2:c.497C>G, NG_008849.1:g.6886C>G, NM_001007139.6:c.-159C>G, NM_001007139.5:c.-159C>G, NM_001007139.4:c.-159C>G, NM_016412.2:c.*481G>C, NR_028043.2:n.1120G>C, NR_028043.1:n.1104G>C, NM_001042377.1:c.497C>G, NR_028044.1:n.1894G>C, NR_133657.1:n.1009G>C, NM_016412.1:c.*270G>C, NP_001035835.1:p.Pro166Arg

Select item 14607669789.

rs1460766978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:2160818 (GRCh38)
11:2182048 (GRCh37)
Canonical SPDI:: NC_000011.10:2160817:G:A,NC_000011.10:2160817:G:T
Gene:: INS (Varview), INS-IGF2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.2160818G>A, NC_000011.10:g.2160818G>T, NC_000011.9:g.2182048G>A, NC_000011.9:g.2182048G>T, NG_050578.1:g.5392C>T, NG_050578.1:g.5392C>A, NR_003512.4:n.213C>T, NR_003512.4:n.213C>A, NR_003512.3:n.213C>T, NR_003512.3:n.213C>A, NM_001042376.3:c.154C>T, NM_001042376.3:c.154C>A, NM_001042376.2:c.154C>T, NM_001042376.2:c.154C>A, NG_007114.1:g.5377C>T, NG_007114.1:g.5377C>A, NM_000207.3:c.154C>T, NM_000207.3:c.154C>A, NM_000207.2:c.154C>T, NM_000207.2:c.154C>A, NM_001185098.2:c.154C>T, NM_001185098.2:c.154C>A, NM_001185098.1:c.154C>T, NM_001185098.1:c.154C>A, NM_001291897.2:c.154C>T, NM_001291897.2:c.154C>A, NM_001291897.1:c.154C>T, NM_001291897.1:c.154C>A, NM_001185097.2:c.154C>T, NM_001185097.2:c.154C>A, NM_001185097.1:c.154C>T, NM_001185097.1:c.154C>A, NM_001042377.1:c.154C>T, NM_001042377.1:c.154C>A, NP_001035835.1:p.Pro52Ser, NP_001035835.1:p.Pro52Thr, NP_000198.1:p.Pro52Ser, NP_000198.1:p.Pro52Thr, NP_001172027.1:p.Pro52Ser, NP_001172027.1:p.Pro52Thr, NP_001278826.1:p.Pro52Ser, NP_001278826.1:p.Pro52Thr, NP_001172026.1:p.Pro52Ser, NP_001172026.1:p.Pro52Thr

Select item 145745434710.

rs1457454347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:2147630 (GRCh38)
11:2168860 (GRCh37)
Canonical SPDI:: NC_000011.10:2147629:G:T
Gene:: IGF2 (Varview), IGF2-AS (Varview), INS-IGF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.2147630G>T, NC_000011.9:g.2168860G>T, NG_050578.1:g.18580C>A, NR_003512.4:n.644C>A, NR_003512.3:n.644C>A, NM_001042376.3:c.585C>A, NM_001042376.2:c.585C>A, NG_008849.1:g.6974C>A, NM_001007139.6:c.-71C>A, NM_001007139.5:c.-71C>A, NM_001007139.4:c.-71C>A, NM_016412.2:c.*393G>T, NR_028043.2:n.1032G>T, NR_028043.1:n.1016G>T, NM_001042377.1:c.585C>A, NR_028044.1:n.1806G>T, NR_133657.1:n.921G>T, NM_016412.1:c.*183G>T

Select item 145169629011.

rs1451696290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2160957 (GRCh38)
11:2182187 (GRCh37)
Canonical SPDI:: NC_000011.10:2160956:C:T
Gene:: INS (Varview), INS-IGF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.2160957C>T, NC_000011.9:g.2182187C>T, NG_050578.1:g.5253G>A, NR_003512.4:n.74G>A, NR_003512.3:n.74G>A, NM_001042376.3:c.15G>A, NM_001042376.2:c.15G>A, NG_007114.1:g.5238G>A, NM_000207.3:c.15G>A, NM_000207.2:c.15G>A, NM_001185098.2:c.15G>A, NM_001185098.1:c.15G>A, NM_001291897.2:c.15G>A, NM_001291897.1:c.15G>A, NM_001185097.2:c.15G>A, NM_001185097.1:c.15G>A, NM_001042377.1:c.15G>A, NP_001035835.1:p.Met5Ile, NP_000198.1:p.Met5Ile, NP_001172027.1:p.Met5Ile, NP_001278826.1:p.Met5Ile, NP_001172026.1:p.Met5Ile

Select item 144594874212.

rs1445948742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 11:2149181 (GRCh38)
11:2170411 (GRCh37)
Canonical SPDI:: NC_000011.10:2149180:C:A,NC_000011.10:2149180:C:G,NC_000011.10:2149180:C:T
Gene:: IGF2 (Varview), INS-IGF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.2149181C>A, NC_000011.10:g.2149181C>G, NC_000011.10:g.2149181C>T, NC_000011.9:g.2170411C>A, NC_000011.9:g.2170411C>G, NC_000011.9:g.2170411C>T, NG_050578.1:g.17029G>T, NG_050578.1:g.17029G>C, NG_050578.1:g.17029G>A, NR_003512.4:n.411G>T, NR_003512.4:n.411G>C, NR_003512.4:n.411G>A, NR_003512.3:n.411G>T, NR_003512.3:n.411G>C, NR_003512.3:n.411G>A, NM_001042376.3:c.352G>T, NM_001042376.3:c.352G>C, NM_001042376.3:c.352G>A, NM_001042376.2:c.352G>T, NM_001042376.2:c.352G>C, NM_001042376.2:c.352G>A, NG_008849.1:g.5423G>T, NG_008849.1:g.5423G>C, NG_008849.1:g.5423G>A, NM_001007139.6:c.-304G>T, NM_001007139.6:c.-304G>C, NM_001007139.6:c.-304G>A, NM_001007139.5:c.-304G>T, NM_001007139.5:c.-304G>C, NM_001007139.5:c.-304G>A, NM_001007139.4:c.-304G>T, NM_001007139.4:c.-304G>C, NM_001007139.4:c.-304G>A, NM_001042377.1:c.352G>T, NM_001042377.1:c.352G>C, NM_001042377.1:c.352G>A, NP_001035835.1:p.Val118Phe, NP_001035835.1:p.Val118Leu, NP_001035835.1:p.Val118Ile

Select item 144260816213.

rs1442608162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:2147776 (GRCh38)
11:2169006 (GRCh37)
Canonical SPDI:: NC_000011.10:2147775:C:A,NC_000011.10:2147775:C:T
Gene:: IGF2 (Varview), IGF2-AS (Varview), INS-IGF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,stop_gained,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000132/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000011.10:g.2147776C>A, NC_000011.10:g.2147776C>T, NC_000011.9:g.2169006C>A, NC_000011.9:g.2169006C>T, NG_050578.1:g.18434G>T, NG_050578.1:g.18434G>A, NR_003512.4:n.498G>T, NR_003512.4:n.498G>A, NR_003512.3:n.498G>T, NR_003512.3:n.498G>A, NM_001042376.3:c.439G>T, NM_001042376.3:c.439G>A, NM_001042376.2:c.439G>T, NM_001042376.2:c.439G>A, NG_008849.1:g.6828G>T, NG_008849.1:g.6828G>A, NM_001007139.6:c.-217G>T, NM_001007139.6:c.-217G>A, NM_001007139.5:c.-217G>T, NM_001007139.5:c.-217G>A, NM_001007139.4:c.-217G>T, NM_001007139.4:c.-217G>A, NM_016412.2:c.*539C>A, NM_016412.2:c.*539C>T, NR_028043.2:n.1178C>A, NR_028043.2:n.1178C>T, NR_028043.1:n.1162C>A, NR_028043.1:n.1162C>T, NM_001042377.1:c.439G>T, NM_001042377.1:c.439G>A, NR_028044.1:n.1952C>A, NR_028044.1:n.1952C>T, NR_133657.1:n.1067C>A, NR_133657.1:n.1067C>T, NM_016412.1:c.*328C>A, NM_016412.1:c.*328C>T, NP_001035835.1:p.Glu147Ter, NP_001035835.1:p.Glu147Lys

Select item 143780226814.

rs1437802268 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2147774 (GRCh38)
11:2169004 (GRCh37)
Canonical SPDI:: NC_000011.10:2147773:C:T
Gene:: IGF2 (Varview), IGF2-AS (Varview), INS-IGF2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant
HGVS:: NC_000011.10:g.2147774C>T, NC_000011.9:g.2169004C>T, NG_050578.1:g.18436G>A, NR_003512.4:n.500G>A, NR_003512.3:n.500G>A, NM_001042376.3:c.441G>A, NM_001042376.2:c.441G>A, NG_008849.1:g.6830G>A, NM_001007139.6:c.-215G>A, NM_001007139.5:c.-215G>A, NM_001007139.4:c.-215G>A, NM_016412.2:c.*537C>T, NR_028043.2:n.1176C>T, NR_028043.1:n.1160C>T, NM_001042377.1:c.441G>A, NR_028044.1:n.1950C>T, NR_133657.1:n.1065C>T, NM_016412.1:c.*326C>T

Select item 142551434215.

rs1425514342 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:2149161 (GRCh38)
11:2170391 (GRCh37)
Canonical SPDI:: NC_000011.10:2149160:T:C
Gene:: IGF2 (Varview), IGF2-AS (Varview), INS-IGF2 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,500B_downstream_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2149161T>C, NC_000011.9:g.2170391T>C, NG_050578.1:g.17049A>G, NR_003512.4:n.431A>G, NR_003512.3:n.431A>G, NM_001042376.3:c.372A>G, NM_001042376.2:c.372A>G, NG_008849.1:g.5443A>G, NM_001007139.6:c.-284A>G, NM_001007139.5:c.-284A>G, NM_001007139.4:c.-284A>G, NM_001042377.1:c.372A>G

Select item 141571127616.

rs1415711276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2149331 (GRCh38)
11:2170561 (GRCh37)
Canonical SPDI:: NC_000011.10:2149330:G:A
Gene:: IGF2 (Varview), INS-IGF2 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.2149331G>A, NC_000011.9:g.2170561G>A, NG_050578.1:g.16879C>T, NR_003512.4:n.261C>T, NR_003512.3:n.261C>T, NM_001042376.3:c.202C>T, NM_001042376.2:c.202C>T, NG_008849.1:g.5273C>T, NM_001007139.6:c.-454C>T, NM_001007139.5:c.-454C>T, NM_001007139.4:c.-454C>T, NM_001042377.1:c.202C>T, NP_001035835.1:p.Leu68Phe

Select item 141007112117.

rs1410071121 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:2160821 (GRCh38)
11:2182051 (GRCh37)
Canonical SPDI:: NC_000011.10:2160820:T:C
Gene:: INS (Varview), INS-IGF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.2160821T>C, NC_000011.9:g.2182051T>C, NG_050578.1:g.5389A>G, NR_003512.4:n.210A>G, NR_003512.3:n.210A>G, NM_001042376.3:c.151A>G, NM_001042376.2:c.151A>G, NG_007114.1:g.5374A>G, NM_000207.3:c.151A>G, NM_000207.2:c.151A>G, NM_001185098.2:c.151A>G, NM_001185098.1:c.151A>G, NM_001291897.2:c.151A>G, NM_001291897.1:c.151A>G, NM_001185097.2:c.151A>G, NM_001185097.1:c.151A>G, NM_001042377.1:c.151A>G, NP_001035835.1:p.Thr51Ala, NP_000198.1:p.Thr51Ala, NP_001172027.1:p.Thr51Ala, NP_001278826.1:p.Thr51Ala, NP_001172026.1:p.Thr51Ala

Select item 140822634118.

rs1408226341 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:2147672 (GRCh38)
11:2168902 (GRCh37)
Canonical SPDI:: NC_000011.10:2147671:GGG:GG
Gene:: IGF2 (Varview), IGF2-AS (Varview), INS-IGF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
HGVS:: NC_000011.10:g.2147674del, NC_000011.9:g.2168904del, NG_050578.1:g.18538del, NR_003512.4:n.602del, NR_003512.3:n.602del, NM_001042376.3:c.543del, NM_001042376.2:c.543del, NG_008849.1:g.6932del, NM_001007139.6:c.-113del, NM_001007139.5:c.-113del, NM_001007139.4:c.-113del, NM_016412.2:c.*437del, NR_028043.2:n.1076del, NR_028043.1:n.1060del, NM_001042377.1:c.543del, NR_028044.1:n.1850del, NR_133657.1:n.965del, NM_016412.1:c.*226del, NP_001035835.1:p.Ser182fs

Select item 140130059019.

rs1401300590 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2149176 (GRCh38)
11:2170406 (GRCh37)
Canonical SPDI:: NC_000011.10:2149175:G:A
Gene:: IGF2 (Varview), INS-IGF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.2149176G>A, NC_000011.9:g.2170406G>A, NG_050578.1:g.17034C>T, NR_003512.4:n.416C>T, NR_003512.3:n.416C>T, NM_001042376.3:c.357C>T, NM_001042376.2:c.357C>T, NG_008849.1:g.5428C>T, NM_001007139.6:c.-299C>T, NM_001007139.5:c.-299C>T, NM_001007139.4:c.-299C>T, NM_001042377.1:c.357C>T

Select item 140030578820.

rs1400305788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2147805 (GRCh38)
11:2169035 (GRCh37)
Canonical SPDI:: NC_000011.10:2147804:C:T
Gene:: IGF2 (Varview), IGF2-AS (Varview), INS-IGF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000011.10:g.2147805C>T, NC_000011.9:g.2169035C>T, NG_050578.1:g.18405G>A, NR_003512.4:n.469G>A, NR_003512.3:n.469G>A, NM_001042376.3:c.410G>A, NM_001042376.2:c.410G>A, NG_008849.1:g.6799G>A, NM_001007139.6:c.-246G>A, NM_001007139.5:c.-246G>A, NM_001007139.4:c.-246G>A, NM_016412.2:c.*568C>T, NR_028043.2:n.1207C>T, NR_028043.1:n.1191C>T, NM_001042377.1:c.410G>A, NR_028044.1:n.1981C>T, NR_133657.1:n.1096C>T, NM_016412.1:c.*357C>T, NP_001035835.1:p.Gly137Asp

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