SNP Links for Protein (Select 768021425) - SNP

Links from Protein

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Select item 14898618751.

rs1489861875 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:36747923 (GRCh38)
21:38120224 (GRCh37)
Canonical SPDI:: NC_000021.9:36747922:T:C
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000021.9:g.36747923T>C, NC_000021.8:g.38120224T>C, NG_016193.2:g.247472A>G, NG_029519.2:g.53810T>C, NG_029519.1:g.53234T>C, NM_005069.6:c.1835T>C, NM_005069.5:c.1835T>C, NM_005069.4:c.1835T>C, NM_005069.3:c.1835T>C, XM_011529694.2:c.1532T>C, XM_011529694.1:c.1532T>C, XM_047440952.1:c.1532T>C, NP_005060.1:p.Leu612Pro, XP_011527996.1:p.Leu511Pro, XP_047296908.1:p.Leu511Pro

Select item 14883174282.

rs1488317428 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 21:36747937 (GRCh38)
21:38120238 (GRCh37)
Canonical SPDI:: NC_000021.9:36747936:CCC:CC
Gene:: SIM2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.0001/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.36747939del, NC_000021.8:g.38120240del, NG_016193.2:g.247458del, NG_029519.2:g.53826del, NG_029519.1:g.53250del, NM_005069.6:c.1851del, NM_005069.5:c.1851del, NM_005069.4:c.1851del, NM_005069.3:c.1851del, XM_011529694.2:c.1548del, XM_011529694.1:c.1548del, XM_047440952.1:c.1548del, NP_005060.1:p.Ala618fs, XP_011527996.1:p.Ala517fs, XP_047296908.1:p.Ala517fs

Select item 14877203743.

rs1487720374 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:36741753 (GRCh38)
21:38114054 (GRCh37)
Canonical SPDI:: NC_000021.9:36741752:G:A,NC_000021.9:36741752:G:T
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.36741753G>A, NC_000021.9:g.36741753G>T, NC_000021.8:g.38114054G>A, NC_000021.8:g.38114054G>T, NG_029519.2:g.47640G>A, NG_029519.2:g.47640G>T, NG_029519.1:g.47064G>A, NG_029519.1:g.47064G>T, NM_005069.6:c.887G>A, NM_005069.6:c.887G>T, NM_005069.5:c.887G>A, NM_005069.5:c.887G>T, NM_005069.4:c.887G>A, NM_005069.4:c.887G>T, NM_005069.3:c.887G>A, NM_005069.3:c.887G>T, NM_009586.5:c.887G>A, NM_009586.5:c.887G>T, NM_009586.4:c.887G>A, NM_009586.4:c.887G>T, NM_009586.3:c.887G>A, NM_009586.3:c.887G>T, NM_009586.2:c.887G>A, NM_009586.2:c.887G>T, XM_017028442.3:c.887G>A, XM_017028442.3:c.887G>T, XM_017028442.2:c.887G>A, XM_017028442.2:c.887G>T, XM_017028442.1:c.887G>A, XM_017028442.1:c.887G>T, XM_011529694.2:c.584G>A, XM_011529694.2:c.584G>T, XM_011529694.1:c.584G>A, XM_011529694.1:c.584G>T, XM_047440952.1:c.584G>A, XM_047440952.1:c.584G>T, NP_005060.1:p.Arg296Gln, NP_005060.1:p.Arg296Leu, NP_033664.2:p.Arg296Gln, NP_033664.2:p.Arg296Leu, XP_016883931.1:p.Arg296Gln, XP_016883931.1:p.Arg296Leu, XP_011527996.1:p.Arg195Gln, XP_011527996.1:p.Arg195Leu, XP_047296908.1:p.Arg195Gln, XP_047296908.1:p.Arg195Leu

Select item 14851424814.

rs1485142481 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:36743474 (GRCh38)
21:38115775 (GRCh37)
Canonical SPDI:: NC_000021.9:36743473:C:G
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.36743474C>G, NC_000021.8:g.38115775C>G, NG_029519.2:g.49361C>G, NG_029519.1:g.48785C>G, NM_005069.6:c.1086C>G, NM_005069.5:c.1086C>G, NM_005069.4:c.1086C>G, NM_005069.3:c.1086C>G, NM_009586.5:c.1086C>G, NM_009586.4:c.1086C>G, NM_009586.3:c.1086C>G, NM_009586.2:c.1086C>G, XM_017028442.3:c.*79C>G, XM_017028442.2:c.*79C>G, XM_017028442.1:c.*79C>G, XM_011529694.2:c.783C>G, XM_011529694.1:c.783C>G, XM_047440952.1:c.783C>G, XM_047440953.1:c.938C>G, XP_047296909.1:p.Pro313Arg

Select item 14845553195.

rs1484555319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:36723072 (GRCh38)
21:38095373 (GRCh37)
Canonical SPDI:: NC_000021.9:36723071:T:C
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000021.9:g.36723072T>C, NC_000021.8:g.38095373T>C, NG_029519.2:g.28959T>C, NG_029519.1:g.28383T>C, NM_005069.6:c.485T>C, NM_005069.5:c.485T>C, NM_005069.4:c.485T>C, NM_005069.3:c.485T>C, NM_009586.5:c.485T>C, NM_009586.4:c.485T>C, NM_009586.3:c.485T>C, NM_009586.2:c.485T>C, XM_017028442.3:c.485T>C, XM_017028442.2:c.485T>C, XM_017028442.1:c.485T>C, XM_011529694.2:c.182T>C, XM_011529694.1:c.182T>C, XM_047440952.1:c.182T>C, XM_047440953.1:c.485T>C, NP_005060.1:p.Leu162Pro, NP_033664.2:p.Leu162Pro, XP_016883931.1:p.Leu162Pro, XP_011527996.1:p.Leu61Pro, XP_047296908.1:p.Leu61Pro, XP_047296909.1:p.Leu162Pro

Select item 14819418256.

rs1481941825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:36745120 (GRCh38)
21:38117421 (GRCh37)
Canonical SPDI:: NC_000021.9:36745119:G:C
Gene:: SIM2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000021.9:g.36745120G>C, NC_000021.8:g.38117421G>C, NG_029519.2:g.51007G>C, NG_029519.1:g.50431G>C, NM_005069.6:c.1560G>C, NM_005069.5:c.1560G>C, NM_005069.4:c.1560G>C, NM_005069.3:c.1560G>C, NM_009586.5:c.1560G>C, NM_009586.4:c.1560G>C, NM_009586.3:c.1560G>C, NM_009586.2:c.1560G>C, XM_011529694.2:c.1257G>C, XM_011529694.1:c.1257G>C, XM_047440952.1:c.1257G>C

Select item 14815305547.

rs1481530554 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 21:36747880 (GRCh38)
21:38120181 (GRCh37)
Canonical SPDI:: NC_000021.9:36747879:G:A,NC_000021.9:36747879:G:C,NC_000021.9:36747879:G:T
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000021.9:g.36747880G>A, NC_000021.9:g.36747880G>C, NC_000021.9:g.36747880G>T, NC_000021.8:g.38120181G>A, NC_000021.8:g.38120181G>C, NC_000021.8:g.38120181G>T, NG_016193.2:g.247515C>T, NG_016193.2:g.247515C>G, NG_016193.2:g.247515C>A, NG_029519.2:g.53767G>A, NG_029519.2:g.53767G>C, NG_029519.2:g.53767G>T, NG_029519.1:g.53191G>A, NG_029519.1:g.53191G>C, NG_029519.1:g.53191G>T, NM_005069.6:c.1792G>A, NM_005069.6:c.1792G>C, NM_005069.6:c.1792G>T, NM_005069.5:c.1792G>A, NM_005069.5:c.1792G>C, NM_005069.5:c.1792G>T, NM_005069.4:c.1792G>A, NM_005069.4:c.1792G>C, NM_005069.4:c.1792G>T, NM_005069.3:c.1792G>A, NM_005069.3:c.1792G>C, NM_005069.3:c.1792G>T, XM_011529694.2:c.1489G>A, XM_011529694.2:c.1489G>C, XM_011529694.2:c.1489G>T, XM_011529694.1:c.1489G>A, XM_011529694.1:c.1489G>C, XM_011529694.1:c.1489G>T, XM_047440952.1:c.1489G>A, XM_047440952.1:c.1489G>C, XM_047440952.1:c.1489G>T, NP_005060.1:p.Val598Met, NP_005060.1:p.Val598Leu, NP_005060.1:p.Val598Leu, XP_011527996.1:p.Val497Met, XP_011527996.1:p.Val497Leu, XP_011527996.1:p.Val497Leu, XP_047296908.1:p.Val497Met, XP_047296908.1:p.Val497Leu, XP_047296908.1:p.Val497Leu

Select item 14801360768.

rs1480136076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:36747709 (GRCh38)
21:38120010 (GRCh37)
Canonical SPDI:: NC_000021.9:36747708:C:G
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.36747709C>G, NC_000021.8:g.38120010C>G, NG_016193.2:g.247686G>C, NG_029519.2:g.53596C>G, NG_029519.1:g.53020C>G, NM_005069.6:c.1621C>G, NM_005069.5:c.1621C>G, NM_005069.4:c.1621C>G, NM_005069.3:c.1621C>G, XM_011529694.2:c.1318C>G, XM_011529694.1:c.1318C>G, XM_047440952.1:c.1318C>G, NP_005060.1:p.Pro541Ala, XP_011527996.1:p.Pro440Ala, XP_047296908.1:p.Pro440Ala

Select item 14795125359.

rs1479512535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:36747952 (GRCh38)
21:38120253 (GRCh37)
Canonical SPDI:: NC_000021.9:36747951:C:G
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/2 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000021.9:g.36747952C>G, NC_000021.8:g.38120253C>G, NG_016193.2:g.247443G>C, NG_029519.2:g.53839C>G, NG_029519.1:g.53263C>G, NM_005069.6:c.1864C>G, NM_005069.5:c.1864C>G, NM_005069.4:c.1864C>G, NM_005069.3:c.1864C>G, XM_011529694.2:c.1561C>G, XM_011529694.1:c.1561C>G, XM_047440952.1:c.1561C>G, NP_005060.1:p.Leu622Val, XP_011527996.1:p.Leu521Val, XP_047296908.1:p.Leu521Val

Select item 147813623310.

rs1478136233 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:36747912 (GRCh38)
21:38120213 (GRCh37)
Canonical SPDI:: NC_000021.9:36747911:G:C
Gene:: SIM2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_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_000021.9:g.36747912G>C, NC_000021.8:g.38120213G>C, NG_016193.2:g.247483C>G, NG_029519.2:g.53799G>C, NG_029519.1:g.53223G>C, NM_005069.6:c.1824G>C, NM_005069.5:c.1824G>C, NM_005069.4:c.1824G>C, NM_005069.3:c.1824G>C, XM_011529694.2:c.1521G>C, XM_011529694.1:c.1521G>C, XM_047440952.1:c.1521G>C

Select item 147797972511.

rs1477979725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:36747855 (GRCh38)
21:38120156 (GRCh37)
Canonical SPDI:: NC_000021.9:36747854:G:C
Gene:: SIM2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.36747855G>C, NC_000021.8:g.38120156G>C, NG_016193.2:g.247540C>G, NG_029519.2:g.53742G>C, NG_029519.1:g.53166G>C, NM_005069.6:c.1767G>C, NM_005069.5:c.1767G>C, NM_005069.4:c.1767G>C, NM_005069.3:c.1767G>C, XM_011529694.2:c.1464G>C, XM_011529694.1:c.1464G>C, XM_047440952.1:c.1464G>C

Select item 147722613412.

rs1477226134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:36747865 (GRCh38)
21:38120166 (GRCh37)
Canonical SPDI:: NC_000021.9:36747864:G:A
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00005/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.36747865G>A, NC_000021.8:g.38120166G>A, NG_016193.2:g.247530C>T, NG_029519.2:g.53752G>A, NG_029519.1:g.53176G>A, NM_005069.6:c.1777G>A, NM_005069.5:c.1777G>A, NM_005069.4:c.1777G>A, NM_005069.3:c.1777G>A, XM_011529694.2:c.1474G>A, XM_011529694.1:c.1474G>A, XM_047440952.1:c.1474G>A, NP_005060.1:p.Ala593Thr, XP_011527996.1:p.Ala492Thr, XP_047296908.1:p.Ala492Thr

Select item 147529397913.

rs1475293979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:36726296 (GRCh38)
21:38098597 (GRCh37)
Canonical SPDI:: NC_000021.9:36726295:A:C
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000021.9:g.36726296A>C, NC_000021.8:g.38098597A>C, NG_029519.2:g.32183A>C, NG_029519.1:g.31607A>C, NM_005069.6:c.721A>C, NM_005069.5:c.721A>C, NM_005069.4:c.721A>C, NM_005069.3:c.721A>C, NM_009586.5:c.721A>C, NM_009586.4:c.721A>C, NM_009586.3:c.721A>C, NM_009586.2:c.721A>C, XM_017028442.3:c.721A>C, XM_017028442.2:c.721A>C, XM_017028442.1:c.721A>C, XM_011529694.2:c.418A>C, XM_011529694.1:c.418A>C, XM_047440952.1:c.418A>C, XM_047440953.1:c.721A>C, NP_005060.1:p.Lys241Gln, NP_033664.2:p.Lys241Gln, XP_016883931.1:p.Lys241Gln, XP_011527996.1:p.Lys140Gln, XP_047296908.1:p.Lys140Gln, XP_047296909.1:p.Lys241Gln

Select item 147450124414.

rs1474501244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:36747758 (GRCh38)
21:38120059 (GRCh37)
Canonical SPDI:: NC_000021.9:36747757:C:T
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.36747758C>T, NC_000021.8:g.38120059C>T, NG_016193.2:g.247637G>A, NG_029519.2:g.53645C>T, NG_029519.1:g.53069C>T, NM_005069.6:c.1670C>T, NM_005069.5:c.1670C>T, NM_005069.4:c.1670C>T, NM_005069.3:c.1670C>T, XM_011529694.2:c.1367C>T, XM_011529694.1:c.1367C>T, XM_047440952.1:c.1367C>T, NP_005060.1:p.Pro557Leu, XP_011527996.1:p.Pro456Leu, XP_047296908.1:p.Pro456Leu

Select item 147366774115.

rs1473667741 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:36747899 (GRCh38)
21:38120200 (GRCh37)
Canonical SPDI:: NC_000021.9:36747898:G:C
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.36747899G>C, NC_000021.8:g.38120200G>C, NG_016193.2:g.247496C>G, NG_029519.2:g.53786G>C, NG_029519.1:g.53210G>C, NM_005069.6:c.1811G>C, NM_005069.5:c.1811G>C, NM_005069.4:c.1811G>C, NM_005069.3:c.1811G>C, XM_011529694.2:c.1508G>C, XM_011529694.1:c.1508G>C, XM_047440952.1:c.1508G>C, NP_005060.1:p.Arg604Pro, XP_011527996.1:p.Arg503Pro, XP_047296908.1:p.Arg503Pro

Select item 147321557416.

rs1473215574 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:36712614 (GRCh38)
21:38084914 (GRCh37)
Canonical SPDI:: NC_000021.9:36712613:T:G
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.36712614T>G, NC_000021.8:g.38084914T>G, NG_029519.2:g.18501T>G, NG_029519.1:g.17924T>G, NM_005069.6:c.340T>G, NM_005069.5:c.340T>G, NM_005069.4:c.340T>G, NM_005069.3:c.340T>G, NM_009586.5:c.340T>G, NM_009586.4:c.340T>G, NM_009586.3:c.340T>G, NM_009586.2:c.340T>G, XM_017028442.3:c.340T>G, XM_017028442.2:c.340T>G, XM_017028442.1:c.340T>G, XM_011529694.2:c.37T>G, XM_011529694.1:c.37T>G, XM_047440952.1:c.37T>G, XM_047440953.1:c.340T>G, NP_005060.1:p.Leu114Val, NP_033664.2:p.Leu114Val, XP_016883931.1:p.Leu114Val, XP_011527996.1:p.Leu13Val, XP_047296908.1:p.Leu13Val, XP_047296909.1:p.Leu114Val

Select item 147081234817.

rs1470812348 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 21:36747780 (GRCh38)
21:38120081 (GRCh37)
Canonical SPDI:: NC_000021.9:36747779:C:A,NC_000021.9:36747779:C:G
Gene:: SIM2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.36747780C>A, NC_000021.9:g.36747780C>G, NC_000021.8:g.38120081C>A, NC_000021.8:g.38120081C>G, NG_016193.2:g.247615G>T, NG_016193.2:g.247615G>C, NG_029519.2:g.53667C>A, NG_029519.2:g.53667C>G, NG_029519.1:g.53091C>A, NG_029519.1:g.53091C>G, NM_005069.6:c.1692C>A, NM_005069.6:c.1692C>G, NM_005069.5:c.1692C>A, NM_005069.5:c.1692C>G, NM_005069.4:c.1692C>A, NM_005069.4:c.1692C>G, NM_005069.3:c.1692C>A, NM_005069.3:c.1692C>G, XM_011529694.2:c.1389C>A, XM_011529694.2:c.1389C>G, XM_011529694.1:c.1389C>A, XM_011529694.1:c.1389C>G, XM_047440952.1:c.1389C>A, XM_047440952.1:c.1389C>G

Select item 147014606618.

rs1470146066 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:36743488 (GRCh38)
21:38115789 (GRCh37)
Canonical SPDI:: NC_000021.9:36743487:G:C
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.36743488G>C, NC_000021.8:g.38115789G>C, NG_029519.2:g.49375G>C, NG_029519.1:g.48799G>C, NM_005069.6:c.1100G>C, NM_005069.5:c.1100G>C, NM_005069.4:c.1100G>C, NM_005069.3:c.1100G>C, NM_009586.5:c.1100G>C, NM_009586.4:c.1100G>C, NM_009586.3:c.1100G>C, NM_009586.2:c.1100G>C, XM_017028442.3:c.*93G>C, XM_011529694.2:c.797G>C, XM_011529694.1:c.797G>C, XM_047440952.1:c.797G>C, XM_047440953.1:c.952G>C, NP_005060.1:p.Arg367Thr, NP_033664.2:p.Arg367Thr, XP_011527996.1:p.Arg266Thr, XP_047296908.1:p.Arg266Thr, XP_047296909.1:p.Gly318Arg

Select item 146953478319.

rs1469534783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:36748033 (GRCh38)
21:38120334 (GRCh37)
Canonical SPDI:: NC_000021.9:36748032:C:G
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.36748033C>G, NC_000021.8:g.38120334C>G, NG_016193.2:g.247362G>C, NG_029519.2:g.53920C>G, NG_029519.1:g.53344C>G, NM_005069.6:c.1945C>G, NM_005069.5:c.1945C>G, NM_005069.4:c.1945C>G, NM_005069.3:c.1945C>G, XM_011529694.2:c.1642C>G, XM_011529694.1:c.1642C>G, XM_047440952.1:c.1642C>G, NP_005060.1:p.Pro649Ala, XP_011527996.1:p.Pro548Ala, XP_047296908.1:p.Pro548Ala

Select item 146662818920.

rs1466628189 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:36719844 (GRCh38)
21:38092145 (GRCh37)
Canonical SPDI:: NC_000021.9:36719843:T:G
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.36719844T>G, NC_000021.8:g.38092145T>G, NG_029519.2:g.25731T>G, NG_029519.1:g.25155T>G, NM_005069.6:c.372T>G, NM_005069.5:c.372T>G, NM_005069.4:c.372T>G, NM_005069.3:c.372T>G, NM_009586.5:c.372T>G, NM_009586.4:c.372T>G, NM_009586.3:c.372T>G, NM_009586.2:c.372T>G, XM_017028442.3:c.372T>G, XM_017028442.2:c.372T>G, XM_017028442.1:c.372T>G, XM_011529694.2:c.69T>G, XM_011529694.1:c.69T>G, XM_047440952.1:c.69T>G, XM_047440953.1:c.372T>G, NP_005060.1:p.Ile124Met, NP_033664.2:p.Ile124Met, XP_016883931.1:p.Ile124Met, XP_011527996.1:p.Ile23Met, XP_047296908.1:p.Ile23Met, XP_047296909.1:p.Ile124Met

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