SNP Links for Protein (Select 1034648330) - SNP

Links from Protein

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Select item 14861721661.

rs1486172166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:83195613 (GRCh38)
6:83905332 (GRCh37)
Canonical SPDI:: NC_000006.12:83195612:G:A
Gene:: PGM3 (Varview), RWDD2A (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83195613G>A, NC_000006.11:g.83905332G>A, NG_034146.2:g.3288C>T, NM_033411.5:c.220G>A, NM_033411.4:c.220G>A, NM_033411.3:c.220G>A, XM_017010222.3:c.22G>A, XM_017010222.2:c.22G>A, XM_017010222.1:c.22G>A, XM_017010223.2:c.22G>A, XM_017010223.1:c.22G>A, NM_001322336.2:c.22G>A, NM_001322336.1:c.22G>A, NM_001322337.2:c.22G>A, NM_001322337.1:c.22G>A, NM_001322339.2:c.22G>A, NM_001322339.1:c.22G>A, NM_001322335.2:c.-6G>A, NM_001322335.1:c.-6G>A, XM_047418135.1:c.22G>A, XM_047418134.1:c.220G>A, XM_047418136.1:c.22G>A, NP_219479.2:p.Val74Met, XP_016865711.1:p.Val8Met, XP_016865712.1:p.Val8Met, NP_001309265.1:p.Val8Met, NP_001309266.1:p.Val8Met, NP_001309268.1:p.Val8Met, XP_047274091.1:p.Val8Met, XP_047274090.1:p.Val74Met, XP_047274092.1:p.Val8Met

Select item 14757139662.

rs1475713966 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:83195867 (GRCh38)
6:83905586 (GRCh37)
Canonical SPDI:: NC_000006.12:83195866:G:A
Gene:: PGM3 (Varview), RWDD2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.83195867G>A, NC_000006.11:g.83905586G>A, NG_034146.2:g.3034C>T, NM_033411.5:c.474G>A, NM_033411.4:c.474G>A, NM_033411.3:c.474G>A, XM_017010222.3:c.276G>A, XM_017010222.2:c.276G>A, XM_017010222.1:c.276G>A, XM_017010223.2:c.276G>A, XM_017010223.1:c.276G>A, NM_001322336.2:c.276G>A, NM_001322336.1:c.276G>A, NM_001322337.2:c.276G>A, NM_001322337.1:c.276G>A, NM_001322339.2:c.276G>A, NM_001322339.1:c.276G>A, NM_001322335.2:c.249G>A, NM_001322335.1:c.249G>A, XM_047418135.1:c.276G>A, XM_047418134.1:c.474G>A, XM_047418136.1:c.276G>A, NP_219479.2:p.Met158Ile, XP_016865711.1:p.Met92Ile, XP_016865712.1:p.Met92Ile, NP_001309265.1:p.Met92Ile, NP_001309266.1:p.Met92Ile, NP_001309268.1:p.Met92Ile, NP_001309264.1:p.Met83Ile, XP_047274091.1:p.Met92Ile, XP_047274090.1:p.Met158Ile, XP_047274092.1:p.Met92Ile

Select item 14738381713.

rs1473838171 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:83195628 (GRCh38)
6:83905347 (GRCh37)
Canonical SPDI:: NC_000006.12:83195627:A:G
Gene:: PGM3 (Varview), RWDD2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83195628A>G, NC_000006.11:g.83905347A>G, NG_034146.2:g.3273T>C, NM_033411.5:c.235A>G, NM_033411.4:c.235A>G, NM_033411.3:c.235A>G, XM_017010222.3:c.37A>G, XM_017010222.2:c.37A>G, XM_017010222.1:c.37A>G, XM_017010223.2:c.37A>G, XM_017010223.1:c.37A>G, NM_001322336.2:c.37A>G, NM_001322336.1:c.37A>G, NM_001322337.2:c.37A>G, NM_001322337.1:c.37A>G, NM_001322339.2:c.37A>G, NM_001322339.1:c.37A>G, NM_001322335.2:c.10A>G, NM_001322335.1:c.10A>G, XM_047418135.1:c.37A>G, XM_047418134.1:c.235A>G, XM_047418136.1:c.37A>G, NP_219479.2:p.Ser79Gly, XP_016865711.1:p.Ser13Gly, XP_016865712.1:p.Ser13Gly, NP_001309265.1:p.Ser13Gly, NP_001309266.1:p.Ser13Gly, NP_001309268.1:p.Ser13Gly, NP_001309264.1:p.Ser4Gly, XP_047274091.1:p.Ser13Gly, XP_047274090.1:p.Ser79Gly, XP_047274092.1:p.Ser13Gly

Select item 14701574744.

rs1470157474 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:83196087 (GRCh38)
6:83905806 (GRCh37)
Canonical SPDI:: NC_000006.12:83196086:A:G
Gene:: RWDD2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83196087A>G, NC_000006.11:g.83905806A>G, NG_034146.2:g.2814T>C, NM_033411.5:c.694A>G, NM_033411.4:c.694A>G, NM_033411.3:c.694A>G, XM_017010222.3:c.496A>G, XM_017010222.2:c.496A>G, XM_017010222.1:c.496A>G, XM_017010223.2:c.496A>G, XM_017010223.1:c.496A>G, NM_001322336.2:c.496A>G, NM_001322336.1:c.496A>G, NM_001322337.2:c.496A>G, NM_001322337.1:c.496A>G, NM_001322339.2:c.496A>G, NM_001322339.1:c.496A>G, NM_001322335.2:c.469A>G, NM_001322335.1:c.469A>G, XM_047418135.1:c.496A>G, XM_047418134.1:c.694A>G, XM_047418136.1:c.496A>G, NP_219479.2:p.Asn232Asp, XP_016865711.1:p.Asn166Asp, XP_016865712.1:p.Asn166Asp, NP_001309265.1:p.Asn166Asp, NP_001309266.1:p.Asn166Asp, NP_001309268.1:p.Asn166Asp, NP_001309264.1:p.Asn157Asp, XP_047274091.1:p.Asn166Asp, XP_047274090.1:p.Asn232Asp, XP_047274092.1:p.Asn166Asp

Select item 14700046855.

rs1470004685 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:83196024 (GRCh38)
6:83905743 (GRCh37)
Canonical SPDI:: NC_000006.12:83196023:A:G
Gene:: RWDD2A (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_000006.12:g.83196024A>G, NC_000006.11:g.83905743A>G, NG_034146.2:g.2877T>C, NM_033411.5:c.631A>G, NM_033411.4:c.631A>G, NM_033411.3:c.631A>G, XM_017010222.3:c.433A>G, XM_017010222.2:c.433A>G, XM_017010222.1:c.433A>G, XM_017010223.2:c.433A>G, XM_017010223.1:c.433A>G, NM_001322336.2:c.433A>G, NM_001322336.1:c.433A>G, NM_001322337.2:c.433A>G, NM_001322337.1:c.433A>G, NM_001322339.2:c.433A>G, NM_001322339.1:c.433A>G, NM_001322335.2:c.406A>G, NM_001322335.1:c.406A>G, XM_047418135.1:c.433A>G, XM_047418134.1:c.631A>G, XM_047418136.1:c.433A>G, NP_219479.2:p.Ile211Val, XP_016865711.1:p.Ile145Val, XP_016865712.1:p.Ile145Val, NP_001309265.1:p.Ile145Val, NP_001309266.1:p.Ile145Val, NP_001309268.1:p.Ile145Val, NP_001309264.1:p.Ile136Val, XP_047274091.1:p.Ile145Val, XP_047274090.1:p.Ile211Val, XP_047274092.1:p.Ile145Val

Select item 14648137416.

rs1464813741 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:83196239 (GRCh38)
6:83905958 (GRCh37)
Canonical SPDI:: NC_000006.12:83196238:A:G
Gene:: RWDD2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83196239A>G, NC_000006.11:g.83905958A>G, NG_034146.2:g.2662T>C, NM_033411.5:c.846A>G, NM_033411.4:c.846A>G, NM_033411.3:c.846A>G, XM_017010222.3:c.648A>G, XM_017010222.2:c.648A>G, XM_017010222.1:c.648A>G, XM_017010223.2:c.648A>G, XM_017010223.1:c.648A>G, NM_001322336.2:c.648A>G, NM_001322336.1:c.648A>G, NM_001322337.2:c.648A>G, NM_001322337.1:c.648A>G, NM_001322339.2:c.648A>G, NM_001322339.1:c.648A>G, NM_001322335.2:c.621A>G, NM_001322335.1:c.621A>G, XM_047418135.1:c.648A>G, XM_047418134.1:c.846A>G, XM_047418136.1:c.648A>G

Select item 14519812097.

rs1451981209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:83195633 (GRCh38)
6:83905352 (GRCh37)
Canonical SPDI:: NC_000006.12:83195632:C:G,NC_000006.12:83195632:C:T
Gene:: PGM3 (Varview), RWDD2A (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83195633C>G, NC_000006.12:g.83195633C>T, NC_000006.11:g.83905352C>G, NC_000006.11:g.83905352C>T, NG_034146.2:g.3268G>C, NG_034146.2:g.3268G>A, NM_033411.5:c.240C>G, NM_033411.5:c.240C>T, NM_033411.4:c.240C>G, NM_033411.4:c.240C>T, NM_033411.3:c.240C>G, NM_033411.3:c.240C>T, XM_017010222.3:c.42C>G, XM_017010222.3:c.42C>T, XM_017010222.2:c.42C>G, XM_017010222.2:c.42C>T, XM_017010222.1:c.42C>G, XM_017010222.1:c.42C>T, XM_017010223.2:c.42C>G, XM_017010223.2:c.42C>T, XM_017010223.1:c.42C>G, XM_017010223.1:c.42C>T, NM_001322336.2:c.42C>G, NM_001322336.2:c.42C>T, NM_001322336.1:c.42C>G, NM_001322336.1:c.42C>T, NM_001322337.2:c.42C>G, NM_001322337.2:c.42C>T, NM_001322337.1:c.42C>G, NM_001322337.1:c.42C>T, NM_001322339.2:c.42C>G, NM_001322339.2:c.42C>T, NM_001322339.1:c.42C>G, NM_001322339.1:c.42C>T, NM_001322335.2:c.15C>G, NM_001322335.2:c.15C>T, NM_001322335.1:c.15C>G, NM_001322335.1:c.15C>T, XM_047418135.1:c.42C>G, XM_047418135.1:c.42C>T, XM_047418134.1:c.240C>G, XM_047418134.1:c.240C>T, XM_047418136.1:c.42C>G, XM_047418136.1:c.42C>T, NP_219479.2:p.Tyr80Ter, XP_016865711.1:p.Tyr14Ter, XP_016865712.1:p.Tyr14Ter, NP_001309265.1:p.Tyr14Ter, NP_001309266.1:p.Tyr14Ter, NP_001309268.1:p.Tyr14Ter, NP_001309264.1:p.Tyr5Ter, XP_047274091.1:p.Tyr14Ter, XP_047274090.1:p.Tyr80Ter, XP_047274092.1:p.Tyr14Ter

Select item 14498875708.

rs1449887570 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:83196053 (GRCh38)
6:83905773 (GRCh37)
Canonical SPDI:: NC_000006.12:83196053:T:TT
Gene:: RWDD2A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.83196054dup, NC_000006.11:g.83905773dup, NG_034146.2:g.2847dup, NM_033411.5:c.661dup, NM_033411.4:c.661dup, NM_033411.3:c.661dup, XM_017010222.3:c.463dup, XM_017010222.2:c.463dup, XM_017010222.1:c.463dup, XM_017010223.2:c.463dup, XM_017010223.1:c.463dup, NM_001322336.2:c.463dup, NM_001322336.1:c.463dup, NM_001322337.2:c.463dup, NM_001322337.1:c.463dup, NM_001322339.2:c.463dup, NM_001322339.1:c.463dup, NM_001322335.2:c.436dup, NM_001322335.1:c.436dup, XM_047418135.1:c.463dup, XM_047418134.1:c.661dup, XM_047418136.1:c.463dup, NP_219479.2:p.Cys221fs, XP_016865711.1:p.Cys155fs, XP_016865712.1:p.Cys155fs, NP_001309265.1:p.Cys155fs, NP_001309266.1:p.Cys155fs, NP_001309268.1:p.Cys155fs, NP_001309264.1:p.Cys146fs, XP_047274091.1:p.Cys155fs, XP_047274090.1:p.Cys221fs, XP_047274092.1:p.Cys155fs

Select item 14483249309.

rs1448324930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:83195707 (GRCh38)
6:83905426 (GRCh37)
Canonical SPDI:: NC_000006.12:83195706:G:C,NC_000006.12:83195706:G:T
Gene:: PGM3 (Varview), RWDD2A (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.83195707G>C, NC_000006.12:g.83195707G>T, NC_000006.11:g.83905426G>C, NC_000006.11:g.83905426G>T, NG_034146.2:g.3194C>G, NG_034146.2:g.3194C>A, NM_033411.5:c.314G>C, NM_033411.5:c.314G>T, NM_033411.4:c.314G>C, NM_033411.4:c.314G>T, NM_033411.3:c.314G>C, NM_033411.3:c.314G>T, XM_017010222.3:c.116G>C, XM_017010222.3:c.116G>T, XM_017010222.2:c.116G>C, XM_017010222.2:c.116G>T, XM_017010222.1:c.116G>C, XM_017010222.1:c.116G>T, XM_017010223.2:c.116G>C, XM_017010223.2:c.116G>T, XM_017010223.1:c.116G>C, XM_017010223.1:c.116G>T, NM_001322336.2:c.116G>C, NM_001322336.2:c.116G>T, NM_001322336.1:c.116G>C, NM_001322336.1:c.116G>T, NM_001322337.2:c.116G>C, NM_001322337.2:c.116G>T, NM_001322337.1:c.116G>C, NM_001322337.1:c.116G>T, NM_001322339.2:c.116G>C, NM_001322339.2:c.116G>T, NM_001322339.1:c.116G>C, NM_001322339.1:c.116G>T, NM_001322335.2:c.89G>C, NM_001322335.2:c.89G>T, NM_001322335.1:c.89G>C, NM_001322335.1:c.89G>T, XM_047418135.1:c.116G>C, XM_047418135.1:c.116G>T, XM_047418134.1:c.314G>C, XM_047418134.1:c.314G>T, XM_047418136.1:c.116G>C, XM_047418136.1:c.116G>T, NP_219479.2:p.Gly105Ala, NP_219479.2:p.Gly105Val, XP_016865711.1:p.Gly39Ala, XP_016865711.1:p.Gly39Val, XP_016865712.1:p.Gly39Ala, XP_016865712.1:p.Gly39Val, NP_001309265.1:p.Gly39Ala, NP_001309265.1:p.Gly39Val, NP_001309266.1:p.Gly39Ala, NP_001309266.1:p.Gly39Val, NP_001309268.1:p.Gly39Ala, NP_001309268.1:p.Gly39Val, NP_001309264.1:p.Gly30Ala, NP_001309264.1:p.Gly30Val, XP_047274091.1:p.Gly39Ala, XP_047274091.1:p.Gly39Val, XP_047274090.1:p.Gly105Ala, XP_047274090.1:p.Gly105Val, XP_047274092.1:p.Gly39Ala, XP_047274092.1:p.Gly39Val

Select item 144193581110.

rs1441935811 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:83196271 (GRCh38)
6:83905990 (GRCh37)
Canonical SPDI:: NC_000006.12:83196270:A:G
Gene:: RWDD2A (Varview)
Functional Consequence:: synonymous_variant,terminator_codon_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83196271A>G, NC_000006.11:g.83905990A>G, NG_034146.2:g.2630T>C, NM_033411.5:c.878A>G, NM_033411.4:c.878A>G, NM_033411.3:c.878A>G, XM_017010222.3:c.680A>G, XM_017010222.2:c.680A>G, XM_017010222.1:c.680A>G, XM_017010223.2:c.680A>G, XM_017010223.1:c.680A>G, NM_001322336.2:c.680A>G, NM_001322336.1:c.680A>G, NM_001322337.2:c.680A>G, NM_001322337.1:c.680A>G, NM_001322339.2:c.680A>G, NM_001322339.1:c.680A>G, NM_001322335.2:c.653A>G, NM_001322335.1:c.653A>G, XM_047418135.1:c.680A>G, XM_047418134.1:c.878A>G, XM_047418136.1:c.680A>G

Select item 143971370211.

rs1439713702 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:83195815 (GRCh38)
6:83905534 (GRCh37)
Canonical SPDI:: NC_000006.12:83195814:T:C
Gene:: PGM3 (Varview), RWDD2A (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83195815T>C, NC_000006.11:g.83905534T>C, NG_034146.2:g.3086A>G, NM_033411.5:c.422T>C, NM_033411.4:c.422T>C, NM_033411.3:c.422T>C, XM_017010222.3:c.224T>C, XM_017010222.2:c.224T>C, XM_017010222.1:c.224T>C, XM_017010223.2:c.224T>C, XM_017010223.1:c.224T>C, NM_001322336.2:c.224T>C, NM_001322336.1:c.224T>C, NM_001322337.2:c.224T>C, NM_001322337.1:c.224T>C, NM_001322339.2:c.224T>C, NM_001322339.1:c.224T>C, NM_001322335.2:c.197T>C, NM_001322335.1:c.197T>C, XM_047418135.1:c.224T>C, XM_047418134.1:c.422T>C, XM_047418136.1:c.224T>C, NP_219479.2:p.Val141Ala, XP_016865711.1:p.Val75Ala, XP_016865712.1:p.Val75Ala, NP_001309265.1:p.Val75Ala, NP_001309266.1:p.Val75Ala, NP_001309268.1:p.Val75Ala, NP_001309264.1:p.Val66Ala, XP_047274091.1:p.Val75Ala, XP_047274090.1:p.Val141Ala, XP_047274092.1:p.Val75Ala

Select item 143748212312.

rs1437482123 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:83195877 (GRCh38)
6:83905596 (GRCh37)
Canonical SPDI:: NC_000006.12:83195876:A:G
Gene:: PGM3 (Varview), RWDD2A (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.83195877A>G, NC_000006.11:g.83905596A>G, NG_034146.2:g.3024T>C, NM_033411.5:c.484A>G, NM_033411.4:c.484A>G, NM_033411.3:c.484A>G, XM_017010222.3:c.286A>G, XM_017010222.2:c.286A>G, XM_017010222.1:c.286A>G, XM_017010223.2:c.286A>G, XM_017010223.1:c.286A>G, NM_001322336.2:c.286A>G, NM_001322336.1:c.286A>G, NM_001322337.2:c.286A>G, NM_001322337.1:c.286A>G, NM_001322339.2:c.286A>G, NM_001322339.1:c.286A>G, NM_001322335.2:c.259A>G, NM_001322335.1:c.259A>G, XM_047418135.1:c.286A>G, XM_047418134.1:c.484A>G, XM_047418136.1:c.286A>G, NP_219479.2:p.Ser162Gly, XP_016865711.1:p.Ser96Gly, XP_016865712.1:p.Ser96Gly, NP_001309265.1:p.Ser96Gly, NP_001309266.1:p.Ser96Gly, NP_001309268.1:p.Ser96Gly, NP_001309264.1:p.Ser87Gly, XP_047274091.1:p.Ser96Gly, XP_047274090.1:p.Ser162Gly, XP_047274092.1:p.Ser96Gly

Select item 143099822413.

rs1430998224 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:83195888 (GRCh38)
6:83905607 (GRCh37)
Canonical SPDI:: NC_000006.12:83195887:A:G
Gene:: PGM3 (Varview), RWDD2A (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000342/1 (KOREAN)
G=0.000546/1 (Korea1K)
HGVS:: NC_000006.12:g.83195888A>G, NC_000006.11:g.83905607A>G, NG_034146.2:g.3013T>C, NM_033411.5:c.495A>G, NM_033411.4:c.495A>G, NM_033411.3:c.495A>G, XM_017010222.3:c.297A>G, XM_017010222.2:c.297A>G, XM_017010222.1:c.297A>G, XM_017010223.2:c.297A>G, XM_017010223.1:c.297A>G, NM_001322336.2:c.297A>G, NM_001322336.1:c.297A>G, NM_001322337.2:c.297A>G, NM_001322337.1:c.297A>G, NM_001322339.2:c.297A>G, NM_001322339.1:c.297A>G, NM_001322335.2:c.270A>G, NM_001322335.1:c.270A>G, XM_047418135.1:c.297A>G, XM_047418134.1:c.495A>G, XM_047418136.1:c.297A>G, NP_219479.2:p.Ile165Met, XP_016865711.1:p.Ile99Met, XP_016865712.1:p.Ile99Met, NP_001309265.1:p.Ile99Met, NP_001309266.1:p.Ile99Met, NP_001309268.1:p.Ile99Met, NP_001309264.1:p.Ile90Met, XP_047274091.1:p.Ile99Met, XP_047274090.1:p.Ile165Met, XP_047274092.1:p.Ile99Met

Select item 142466869514.

rs1424668695 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:83195684 (GRCh38)
6:83905403 (GRCh37)
Canonical SPDI:: NC_000006.12:83195683:T:G
Gene:: PGM3 (Varview), RWDD2A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.83195684T>G, NC_000006.11:g.83905403T>G, NG_034146.2:g.3217A>C, NM_033411.5:c.291T>G, NM_033411.4:c.291T>G, NM_033411.3:c.291T>G, XM_017010222.3:c.93T>G, XM_017010222.2:c.93T>G, XM_017010222.1:c.93T>G, XM_017010223.2:c.93T>G, XM_017010223.1:c.93T>G, NM_001322336.2:c.93T>G, NM_001322336.1:c.93T>G, NM_001322337.2:c.93T>G, NM_001322337.1:c.93T>G, NM_001322339.2:c.93T>G, NM_001322339.1:c.93T>G, NM_001322335.2:c.66T>G, NM_001322335.1:c.66T>G, XM_047418135.1:c.93T>G, XM_047418134.1:c.291T>G, XM_047418136.1:c.93T>G, NP_219479.2:p.His97Gln, XP_016865711.1:p.His31Gln, XP_016865712.1:p.His31Gln, NP_001309265.1:p.His31Gln, NP_001309266.1:p.His31Gln, NP_001309268.1:p.His31Gln, NP_001309264.1:p.His22Gln, XP_047274091.1:p.His31Gln, XP_047274090.1:p.His97Gln, XP_047274092.1:p.His31Gln

Select item 141697063915.

rs1416970639 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 6:83196011 (GRCh38)
6:83905730 (GRCh37)
Canonical SPDI:: NC_000006.12:83196010:G:A,NC_000006.12:83196010:G:C,NC_000006.12:83196010:G:T
Gene:: RWDD2A (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
A=0.000011/3 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.83196011G>A, NC_000006.12:g.83196011G>C, NC_000006.12:g.83196011G>T, NC_000006.11:g.83905730G>A, NC_000006.11:g.83905730G>C, NC_000006.11:g.83905730G>T, NG_034146.2:g.2890C>T, NG_034146.2:g.2890C>G, NG_034146.2:g.2890C>A, NM_033411.5:c.618G>A, NM_033411.5:c.618G>C, NM_033411.5:c.618G>T, NM_033411.4:c.618G>A, NM_033411.4:c.618G>C, NM_033411.4:c.618G>T, NM_033411.3:c.618G>A, NM_033411.3:c.618G>C, NM_033411.3:c.618G>T, XM_017010222.3:c.420G>A, XM_017010222.3:c.420G>C, XM_017010222.3:c.420G>T, XM_017010222.2:c.420G>A, XM_017010222.2:c.420G>C, XM_017010222.2:c.420G>T, XM_017010222.1:c.420G>A, XM_017010222.1:c.420G>C, XM_017010222.1:c.420G>T, XM_017010223.2:c.420G>A, XM_017010223.2:c.420G>C, XM_017010223.2:c.420G>T, XM_017010223.1:c.420G>A, XM_017010223.1:c.420G>C, XM_017010223.1:c.420G>T, NM_001322336.2:c.420G>A, NM_001322336.2:c.420G>C, NM_001322336.2:c.420G>T, NM_001322336.1:c.420G>A, NM_001322336.1:c.420G>C, NM_001322336.1:c.420G>T, NM_001322337.2:c.420G>A, NM_001322337.2:c.420G>C, NM_001322337.2:c.420G>T, NM_001322337.1:c.420G>A, NM_001322337.1:c.420G>C, NM_001322337.1:c.420G>T, NM_001322339.2:c.420G>A, NM_001322339.2:c.420G>C, NM_001322339.2:c.420G>T, NM_001322339.1:c.420G>A, NM_001322339.1:c.420G>C, NM_001322339.1:c.420G>T, NM_001322335.2:c.393G>A, NM_001322335.2:c.393G>C, NM_001322335.2:c.393G>T, NM_001322335.1:c.393G>A, NM_001322335.1:c.393G>C, NM_001322335.1:c.393G>T, XM_047418135.1:c.420G>A, XM_047418135.1:c.420G>C, XM_047418135.1:c.420G>T, XM_047418134.1:c.618G>A, XM_047418134.1:c.618G>C, XM_047418134.1:c.618G>T, XM_047418136.1:c.420G>A, XM_047418136.1:c.420G>C, XM_047418136.1:c.420G>T, NP_219479.2:p.Glu206Asp, NP_219479.2:p.Glu206Asp, XP_016865711.1:p.Glu140Asp, XP_016865711.1:p.Glu140Asp, XP_016865712.1:p.Glu140Asp, XP_016865712.1:p.Glu140Asp, NP_001309265.1:p.Glu140Asp, NP_001309265.1:p.Glu140Asp, NP_001309266.1:p.Glu140Asp, NP_001309266.1:p.Glu140Asp, NP_001309268.1:p.Glu140Asp, NP_001309268.1:p.Glu140Asp, NP_001309264.1:p.Glu131Asp, NP_001309264.1:p.Glu131Asp, XP_047274091.1:p.Glu140Asp, XP_047274091.1:p.Glu140Asp, XP_047274090.1:p.Glu206Asp, XP_047274090.1:p.Glu206Asp, XP_047274092.1:p.Glu140Asp, XP_047274092.1:p.Glu140Asp

Select item 141627205016.

rs1416272050 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:83195624 (GRCh38)
6:83905343 (GRCh37)
Canonical SPDI:: NC_000006.12:83195623:T:C
Gene:: PGM3 (Varview), RWDD2A (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83195624T>C, NC_000006.11:g.83905343T>C, NG_034146.2:g.3277A>G, NM_033411.5:c.231T>C, NM_033411.4:c.231T>C, NM_033411.3:c.231T>C, XM_017010222.3:c.33T>C, XM_017010222.2:c.33T>C, XM_017010222.1:c.33T>C, XM_017010223.2:c.33T>C, XM_017010223.1:c.33T>C, NM_001322336.2:c.33T>C, NM_001322336.1:c.33T>C, NM_001322337.2:c.33T>C, NM_001322337.1:c.33T>C, NM_001322339.2:c.33T>C, NM_001322339.1:c.33T>C, NM_001322335.2:c.6T>C, NM_001322335.1:c.6T>C, XM_047418135.1:c.33T>C, XM_047418134.1:c.231T>C, XM_047418136.1:c.33T>C

Select item 141512944917.

rs1415129449 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:83195638 (GRCh38)
6:83905357 (GRCh37)
Canonical SPDI:: NC_000006.12:83195637:A:G
Gene:: PGM3 (Varview), RWDD2A (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.83195638A>G, NC_000006.11:g.83905357A>G, NG_034146.2:g.3263T>C, NM_033411.5:c.245A>G, NM_033411.4:c.245A>G, NM_033411.3:c.245A>G, XM_017010222.3:c.47A>G, XM_017010222.2:c.47A>G, XM_017010222.1:c.47A>G, XM_017010223.2:c.47A>G, XM_017010223.1:c.47A>G, NM_001322336.2:c.47A>G, NM_001322336.1:c.47A>G, NM_001322337.2:c.47A>G, NM_001322337.1:c.47A>G, NM_001322339.2:c.47A>G, NM_001322339.1:c.47A>G, NM_001322335.2:c.20A>G, NM_001322335.1:c.20A>G, XM_047418135.1:c.47A>G, XM_047418134.1:c.245A>G, XM_047418136.1:c.47A>G, NP_219479.2:p.Tyr82Cys, XP_016865711.1:p.Tyr16Cys, XP_016865712.1:p.Tyr16Cys, NP_001309265.1:p.Tyr16Cys, NP_001309266.1:p.Tyr16Cys, NP_001309268.1:p.Tyr16Cys, NP_001309264.1:p.Tyr7Cys, XP_047274091.1:p.Tyr16Cys, XP_047274090.1:p.Tyr82Cys, XP_047274092.1:p.Tyr16Cys

Select item 141347450318.

rs1413474503 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:83196113 (GRCh38)
6:83905832 (GRCh37)
Canonical SPDI:: NC_000006.12:83196112:T:C
Gene:: RWDD2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83196113T>C, NC_000006.11:g.83905832T>C, NG_034146.2:g.2788A>G, NM_033411.5:c.720T>C, NM_033411.4:c.720T>C, NM_033411.3:c.720T>C, XM_017010222.3:c.522T>C, XM_017010222.2:c.522T>C, XM_017010222.1:c.522T>C, XM_017010223.2:c.522T>C, XM_017010223.1:c.522T>C, NM_001322336.2:c.522T>C, NM_001322336.1:c.522T>C, NM_001322337.2:c.522T>C, NM_001322337.1:c.522T>C, NM_001322339.2:c.522T>C, NM_001322339.1:c.522T>C, NM_001322335.2:c.495T>C, NM_001322335.1:c.495T>C, XM_047418135.1:c.522T>C, XM_047418134.1:c.720T>C, XM_047418136.1:c.522T>C

Select item 141345449719.

rs1413454497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:83196028 (GRCh38)
6:83905747 (GRCh37)
Canonical SPDI:: NC_000006.12:83196027:G:A
Gene:: RWDD2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83196028G>A, NC_000006.11:g.83905747G>A, NG_034146.2:g.2873C>T, NM_033411.5:c.635G>A, NM_033411.4:c.635G>A, NM_033411.3:c.635G>A, XM_017010222.3:c.437G>A, XM_017010222.2:c.437G>A, XM_017010222.1:c.437G>A, XM_017010223.2:c.437G>A, XM_017010223.1:c.437G>A, NM_001322336.2:c.437G>A, NM_001322336.1:c.437G>A, NM_001322337.2:c.437G>A, NM_001322337.1:c.437G>A, NM_001322339.2:c.437G>A, NM_001322339.1:c.437G>A, NM_001322335.2:c.410G>A, NM_001322335.1:c.410G>A, XM_047418135.1:c.437G>A, XM_047418134.1:c.635G>A, XM_047418136.1:c.437G>A, NP_219479.2:p.Arg212Lys, XP_016865711.1:p.Arg146Lys, XP_016865712.1:p.Arg146Lys, NP_001309265.1:p.Arg146Lys, NP_001309266.1:p.Arg146Lys, NP_001309268.1:p.Arg146Lys, NP_001309264.1:p.Arg137Lys, XP_047274091.1:p.Arg146Lys, XP_047274090.1:p.Arg212Lys, XP_047274092.1:p.Arg146Lys

Select item 140952801220.

rs1409528012 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:83195983 (GRCh38)
6:83905702 (GRCh37)
Canonical SPDI:: NC_000006.12:83195982:T:A
Gene:: RWDD2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83195983T>A, NC_000006.11:g.83905702T>A, NG_034146.2:g.2918A>T, NM_033411.5:c.590T>A, NM_033411.4:c.590T>A, NM_033411.3:c.590T>A, XM_017010222.3:c.392T>A, XM_017010222.2:c.392T>A, XM_017010222.1:c.392T>A, XM_017010223.2:c.392T>A, XM_017010223.1:c.392T>A, NM_001322336.2:c.392T>A, NM_001322336.1:c.392T>A, NM_001322337.2:c.392T>A, NM_001322337.1:c.392T>A, NM_001322339.2:c.392T>A, NM_001322339.1:c.392T>A, NM_001322335.2:c.365T>A, NM_001322335.1:c.365T>A, XM_047418135.1:c.392T>A, XM_047418134.1:c.590T>A, XM_047418136.1:c.392T>A, NP_219479.2:p.Val197Glu, XP_016865711.1:p.Val131Glu, XP_016865712.1:p.Val131Glu, NP_001309265.1:p.Val131Glu, NP_001309266.1:p.Val131Glu, NP_001309268.1:p.Val131Glu, NP_001309264.1:p.Val122Glu, XP_047274091.1:p.Val131Glu, XP_047274090.1:p.Val197Glu, XP_047274092.1:p.Val131Glu

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