SNP Links for Protein (Select 7657407) - SNP

Links from Protein

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Select item 14857737751.

rs1485773775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:133207293 (GRCh38)
9:136082680 (GRCh37)
Canonical SPDI:: NC_000009.12:133207292:C:T
Gene:: OBP2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.133207293C>T, NC_000009.11:g.136082680C>T, NW_009646201.1:g.33239C>T, NW_003315925.1:g.33239C>T, XM_006717086.4:c.222G>A, XM_006717086.3:c.222G>A, XM_006717086.2:c.222G>A, XM_006717086.1:c.222G>A, NM_014581.4:c.321G>A, NM_014581.3:c.321G>A, NM_014581.2:c.321G>A, XM_017014654.2:c.477G>A, XM_017014654.1:c.477G>A, NR_110242.2:n.478G>A, NR_110242.1:n.478G>A, NR_110243.2:n.238G>A, NR_110243.1:n.238G>A, NM_001288987.2:c.321G>A, NM_001288987.1:c.321G>A, XM_047423295.1:c.477G>A

Select item 14853970932.

rs1485397093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:133208164 (GRCh38)
9:136083551 (GRCh37)
Canonical SPDI:: NC_000009.12:133208163:C:G
Gene:: OBP2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000009.12:g.133208164C>G, NC_000009.11:g.136083551C>G, NW_009646201.1:g.34110C>G, NW_003315925.1:g.34110C>G, XM_006717086.4:c.147G>C, XM_006717086.3:c.147G>C, XM_006717086.2:c.147G>C, XM_006717086.1:c.147G>C, NM_014581.4:c.246G>C, NM_014581.3:c.246G>C, NM_014581.2:c.246G>C, NM_001288987.2:c.246G>C, NM_001288987.1:c.246G>C, XM_017014654.2:c.402G>C, XM_017014654.1:c.402G>C, NR_110242.2:n.297G>C, NR_110242.1:n.297G>C, NR_110243.2:n.163G>C, NR_110243.1:n.163G>C, XM_047423295.1:c.402G>C

Select item 14845580043.

rs1484558004 has merged into rs1132282 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133206329 (GRCh38)
9:136081716 (GRCh37)
Canonical SPDI:: NC_000009.12:133206328:G:A
Gene:: OBP2B (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000085/3 (ALFA)
A=0.000033/4 (ExAC)
A=0.000077/1 (GoESP)
A=0.00008/20 (GnomAD_exomes)
A=0.000125/33 (TOPMED)
A=0.000143/20 (GnomAD)
HGVS:: NC_000009.12:g.133206329G>A, NC_000009.11:g.136081716G>A, NW_009646201.1:g.32275G>A, NW_003315925.1:g.32275G>A, XM_006717086.4:c.377C>T, XM_006717086.3:c.377C>T, XM_006717086.2:c.377C>T, XM_006717086.1:c.377C>T, NM_014581.4:c.476C>T, NM_014581.3:c.476C>T, NM_014581.2:c.476C>T, NM_001288987.2:c.476C>T, NM_001288987.1:c.476C>T, XM_017014654.2:c.632C>T, XM_017014654.1:c.632C>T, NR_110242.2:n.633C>T, NR_110242.1:n.633C>T, NR_110243.2:n.393C>T, NR_110243.1:n.393C>T, XM_047423295.1:c.632C>T, XP_006717149.1:p.Thr126Met, NP_055396.1:p.Thr159Met, NP_001275916.1:p.Thr159Met, XP_016870143.1:p.Thr211Met, XP_047279251.1:p.Thr211Met

Select item 14802428984.

rs1480242898 has merged into rs781962012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133209149 (GRCh38)
9:136084536 (GRCh37)
Canonical SPDI:: NC_000009.12:133209148:G:A
Gene:: OBP2B (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000084/19 (GnomAD_exomes)
A=0.000147/10 (ExAC)
HGVS:: NC_000009.12:g.133209149G>A, NC_000009.11:g.136084536G>A, NW_009646201.1:g.35095G>A, NW_003315925.1:g.35095G>A, NM_014581.4:c.51C>T, NM_014581.3:c.51C>T, NM_014581.2:c.51C>T, NM_001288987.2:c.51C>T, NM_001288987.1:c.51C>T, NR_110242.2:n.102C>T, NR_110242.1:n.102C>T, XM_017014654.2:c.207C>T, XM_017014654.1:c.207C>T, NR_110243.2:n.102C>T, NR_110243.1:n.102C>T, XM_047423295.1:c.207C>T

Select item 14784986125.

rs1478498612 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133208537 (GRCh38)
9:136083924 (GRCh37)
Canonical SPDI:: NC_000009.12:133208536:G:A
Gene:: OBP2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.133208537G>A, NC_000009.11:g.136083924G>A, NW_009646201.1:g.34483G>A, NW_003315925.1:g.34483G>A, XM_006717086.4:c.39C>T, XM_006717086.3:c.39C>T, XM_006717086.2:c.39C>T, XM_006717086.1:c.39C>T, NM_014581.4:c.138C>T, NM_014581.3:c.138C>T, NM_014581.2:c.138C>T, NM_001288987.2:c.138C>T, NM_001288987.1:c.138C>T, XM_017014654.2:c.294C>T, XM_017014654.1:c.294C>T, NR_110242.2:n.189C>T, NR_110242.1:n.189C>T, XM_047423295.1:c.294C>T

Select item 14778141186.

rs1477814118 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:133207227 (GRCh38)
9:136082614 (GRCh37)
Canonical SPDI:: NC_000009.12:133207226:C:T
Gene:: OBP2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_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_000009.12:g.133207227C>T, NC_000009.11:g.136082614C>T, NW_009646201.1:g.33173C>T, NW_003315925.1:g.33173C>T, XM_006717086.4:c.288G>A, XM_006717086.3:c.288G>A, XM_006717086.2:c.288G>A, XM_006717086.1:c.288G>A, NM_014581.4:c.387G>A, NM_014581.3:c.387G>A, NM_014581.2:c.387G>A, XM_017014654.2:c.543G>A, XM_017014654.1:c.543G>A, NR_110242.2:n.544G>A, NR_110242.1:n.544G>A, NR_110243.2:n.304G>A, NR_110243.1:n.304G>A, NM_001288987.2:c.387G>A, NM_001288987.1:c.387G>A, XM_047423295.1:c.543G>A

Select item 14761202707.

rs1476120270 has merged into rs1052512 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:133207258 (GRCh38)
9:136082645 (GRCh37)
Canonical SPDI:: NC_000009.12:133207257:T:C
Gene:: OBP2B (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.00002/5 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
C=0.000033/4 (ExAC)
C=0.000077/1 (GoESP)
HGVS:: NC_000009.12:g.133207258T>C, NC_000009.11:g.136082645T>C, NW_009646201.1:g.33204T>C, NW_003315925.1:g.33204T>C, XM_006717086.4:c.257A>G, XM_006717086.3:c.257A>G, XM_006717086.2:c.257A>G, XM_006717086.1:c.257A>G, NM_014581.4:c.356A>G, NM_014581.3:c.356A>G, NM_014581.2:c.356A>G, XM_017014654.2:c.512A>G, XM_017014654.1:c.512A>G, NR_110242.2:n.513A>G, NR_110242.1:n.513A>G, NR_110243.2:n.273A>G, NR_110243.1:n.273A>G, NM_001288987.2:c.356A>G, NM_001288987.1:c.356A>G, XM_047423295.1:c.512A>G, XP_006717149.1:p.His86Arg, NP_055396.1:p.His119Arg, XP_016870143.1:p.His171Arg, NP_001275916.1:p.His119Arg, XP_047279251.1:p.His171Arg

Select item 14757019838.

rs1475701983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:133208135 (GRCh38)
9:136083522 (GRCh37)
Canonical SPDI:: NC_000009.12:133208134:G:T
Gene:: OBP2B (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.133208135G>T, NC_000009.11:g.136083522G>T, NW_009646201.1:g.34081G>T, NW_003315925.1:g.34081G>T, XM_006717086.4:c.176C>A, XM_006717086.3:c.176C>A, XM_006717086.2:c.176C>A, XM_006717086.1:c.176C>A, NM_014581.4:c.275C>A, NM_014581.3:c.275C>A, NM_014581.2:c.275C>A, XM_017014654.2:c.431C>A, XM_017014654.1:c.431C>A, NR_110242.2:n.326C>A, NR_110242.1:n.326C>A, NR_110243.2:n.192C>A, NR_110243.1:n.192C>A, NM_001288987.2:c.275C>A, NM_001288987.1:c.275C>A, XM_047423295.1:c.431C>A, XP_006717149.1:p.Ala59Asp, NP_055396.1:p.Ala92Asp, XP_016870143.1:p.Ala144Asp, NP_001275916.1:p.Ala92Asp, XP_047279251.1:p.Ala144Asp

Select item 14752468699.

rs1475246869 has merged into rs782439491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:133207332 (GRCh38)
9:136082719 (GRCh37)
Canonical SPDI:: NC_000009.12:133207331:C:G
Gene:: OBP2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000017/2 (ExAC)
HGVS:: NC_000009.12:g.133207332C>G, NC_000009.11:g.136082719C>G, NW_009646201.1:g.33278C>G, NW_003315925.1:g.33278C>G, XM_006717086.4:c.183G>C, XM_006717086.3:c.183G>C, XM_006717086.2:c.183G>C, XM_006717086.1:c.183G>C, NM_014581.4:c.282G>C, NM_014581.3:c.282G>C, NM_014581.2:c.282G>C, NM_001288987.2:c.282G>C, NM_001288987.1:c.282G>C, XM_017014654.2:c.438G>C, XM_017014654.1:c.438G>C, NR_110242.2:n.439G>C, NR_110242.1:n.439G>C, NR_110243.2:n.199G>C, NR_110243.1:n.199G>C, XM_047423295.1:c.438G>C

Select item 147255113510.

rs1472551135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:133206362 (GRCh38)
9:136081749 (GRCh37)
Canonical SPDI:: NC_000009.12:133206361:T:C
Gene:: OBP2B (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.133206362T>C, NC_000009.11:g.136081749T>C, NW_009646201.1:g.32308T>C, NW_003315925.1:g.32308T>C, XM_006717086.4:c.344A>G, XM_006717086.3:c.344A>G, XM_006717086.2:c.344A>G, XM_006717086.1:c.344A>G, NM_014581.4:c.443A>G, NM_014581.3:c.443A>G, NM_014581.2:c.443A>G, XM_017014654.2:c.599A>G, XM_017014654.1:c.599A>G, NR_110242.2:n.600A>G, NR_110242.1:n.600A>G, NR_110243.2:n.360A>G, NR_110243.1:n.360A>G, NM_001288987.2:c.443A>G, NM_001288987.1:c.443A>G, XM_047423295.1:c.599A>G, XP_006717149.1:p.Gln115Arg, NP_055396.1:p.Gln148Arg, XP_016870143.1:p.Gln200Arg, NP_001275916.1:p.Gln148Arg, XP_047279251.1:p.Gln200Arg

Select item 146924737111.

rs1469247371 has merged into rs782346937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:133207237 (GRCh38)
9:136082624 (GRCh37)
Canonical SPDI:: NC_000009.12:133207236:C:G
Gene:: OBP2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00002/5 (GnomAD_exomes)
G=0.000041/5 (ExAC)
HGVS:: NC_000009.12:g.133207237C>G, NC_000009.11:g.136082624C>G, NW_009646201.1:g.33183C>G, NW_003315925.1:g.33183C>G, XM_006717086.4:c.278G>C, XM_006717086.3:c.278G>C, XM_006717086.2:c.278G>C, XM_006717086.1:c.278G>C, NM_014581.4:c.377G>C, NM_014581.3:c.377G>C, NM_014581.2:c.377G>C, XM_017014654.2:c.533G>C, XM_017014654.1:c.533G>C, NR_110242.2:n.534G>C, NR_110242.1:n.534G>C, NR_110243.2:n.294G>C, NR_110243.1:n.294G>C, NM_001288987.2:c.377G>C, NM_001288987.1:c.377G>C, XM_047423295.1:c.533G>C, XP_006717149.1:p.Gly93Ala, NP_055396.1:p.Gly126Ala, XP_016870143.1:p.Gly178Ala, NP_001275916.1:p.Gly126Ala, XP_047279251.1:p.Gly178Ala

Select item 146920446912.

rs1469204469 has merged into rs782027368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133208511 (GRCh38)
9:136083898 (GRCh37)
Canonical SPDI:: NC_000009.12:133208510:G:A
Gene:: OBP2B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000008/1 (ExAC)
HGVS:: NC_000009.12:g.133208511G>A, NC_000009.11:g.136083898G>A, NW_009646201.1:g.34457G>A, NW_003315925.1:g.34457G>A, XM_006717086.4:c.65C>T, XM_006717086.3:c.65C>T, XM_006717086.2:c.65C>T, XM_006717086.1:c.65C>T, NM_014581.4:c.164C>T, NM_014581.3:c.164C>T, NM_014581.2:c.164C>T, XM_017014654.2:c.320C>T, XM_017014654.1:c.320C>T, NR_110242.2:n.215C>T, NR_110242.1:n.215C>T, NM_001288987.2:c.164C>T, NM_001288987.1:c.164C>T, XM_047423295.1:c.320C>T, XP_006717149.1:p.Thr22Ile, NP_055396.1:p.Thr55Ile, XP_016870143.1:p.Thr107Ile, NP_001275916.1:p.Thr55Ile, XP_047279251.1:p.Thr107Ile

Select item 146900098613.

rs1469000986 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 9:133208168 (GRCh38)
9:136083555 (GRCh37)
Canonical SPDI:: NC_000009.12:133208167:A:C,NC_000009.12:133208167:A:T
Gene:: OBP2B (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.133208168A>C, NC_000009.12:g.133208168A>T, NC_000009.11:g.136083555A>C, NC_000009.11:g.136083555A>T, NW_009646201.1:g.34114A>C, NW_009646201.1:g.34114A>T, NW_003315925.1:g.34114A>C, NW_003315925.1:g.34114A>T, XM_006717086.4:c.143T>G, XM_006717086.4:c.143T>A, XM_006717086.3:c.143T>G, XM_006717086.3:c.143T>A, XM_006717086.2:c.143T>G, XM_006717086.2:c.143T>A, XM_006717086.1:c.143T>G, XM_006717086.1:c.143T>A, NM_014581.4:c.242T>G, NM_014581.4:c.242T>A, NM_014581.3:c.242T>G, NM_014581.3:c.242T>A, NM_014581.2:c.242T>G, NM_014581.2:c.242T>A, XM_017014654.2:c.398T>G, XM_017014654.2:c.398T>A, XM_017014654.1:c.398T>G, XM_017014654.1:c.398T>A, NR_110242.2:n.293T>G, NR_110242.2:n.293T>A, NR_110242.1:n.293T>G, NR_110242.1:n.293T>A, NR_110243.2:n.159T>G, NR_110243.2:n.159T>A, NR_110243.1:n.159T>G, NR_110243.1:n.159T>A, NM_001288987.2:c.242T>G, NM_001288987.2:c.242T>A, NM_001288987.1:c.242T>G, NM_001288987.1:c.242T>A, XM_047423295.1:c.398T>G, XM_047423295.1:c.398T>A, XP_006717149.1:p.Met48Arg, XP_006717149.1:p.Met48Lys, NP_055396.1:p.Met81Arg, NP_055396.1:p.Met81Lys, XP_016870143.1:p.Met133Arg, XP_016870143.1:p.Met133Lys, NP_001275916.1:p.Met81Arg, NP_001275916.1:p.Met81Lys, XP_047279251.1:p.Met133Arg, XP_047279251.1:p.Met133Lys

Select item 146717301714.

rs1467173017 has merged into rs144247248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:133208480 (GRCh38)
9:136083867 (GRCh37)
Canonical SPDI:: NC_000009.12:133208479:C:T
Gene:: OBP2B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00026/6 (ALFA)
T=0.000064/9 (GnomAD)
T=0.000077/1 (GoESP)
T=0.000132/35 (TOPMED)
T=0.000183/22 (ExAC)
T=0.000219/55 (GnomAD_exomes)
T=0.000312/2 (1000Genomes)
T=0.000955/16 (TOMMO)
T=0.001638/3 (Korea1K)
T=0.004449/13 (KOREAN)
HGVS:: NC_000009.12:g.133208480C>T, NC_000009.11:g.136083867C>T, NW_009646201.1:g.34426C>T, NW_003315925.1:g.34426C>T, XM_006717086.4:c.96G>A, XM_006717086.3:c.96G>A, XM_006717086.2:c.96G>A, XM_006717086.1:c.96G>A, NM_014581.4:c.195G>A, NM_014581.3:c.195G>A, NM_014581.2:c.195G>A, NM_001288987.2:c.195G>A, NM_001288987.1:c.195G>A, XM_017014654.2:c.351G>A, XM_017014654.1:c.351G>A, NR_110242.2:n.246G>A, NR_110242.1:n.246G>A, XM_047423295.1:c.351G>A

Select item 146696898415.

rs1466968984 has merged into rs565109635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:133209161 (GRCh38)
9:136084548 (GRCh37)
Canonical SPDI:: NC_000009.12:133209160:G:A,NC_000009.12:133209160:G:C
Gene:: OBP2B (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
C=0.000156/1 (1000Genomes)
A=0.000546/1 (Korea1K)
A=0.001028/3 (KOREAN)
A=0.001769/30 (TOMMO)
HGVS:: NC_000009.12:g.133209161G>A, NC_000009.12:g.133209161G>C, NC_000009.11:g.136084548G>A, NC_000009.11:g.136084548G>C, NW_009646201.1:g.35107G>A, NW_009646201.1:g.35107G>C, NW_003315925.1:g.35107G>A, NW_003315925.1:g.35107G>C, NM_014581.4:c.39C>T, NM_014581.4:c.39C>G, NM_014581.3:c.39C>T, NM_014581.3:c.39C>G, NM_014581.2:c.39C>T, NM_014581.2:c.39C>G, NM_001288987.2:c.39C>T, NM_001288987.2:c.39C>G, NM_001288987.1:c.39C>T, NM_001288987.1:c.39C>G, NR_110242.2:n.90C>T, NR_110242.2:n.90C>G, NR_110242.1:n.90C>T, NR_110242.1:n.90C>G, XM_017014654.2:c.195C>T, XM_017014654.2:c.195C>G, XM_017014654.1:c.195C>T, XM_017014654.1:c.195C>G, NR_110243.2:n.90C>T, NR_110243.2:n.90C>G, NR_110243.1:n.90C>T, NR_110243.1:n.90C>G, XM_047423295.1:c.195C>T, XM_047423295.1:c.195C>G

Select item 146664668616.

rs1466646686 has merged into rs782504013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133209174 (GRCh38)
9:136084561 (GRCh37)
Canonical SPDI:: NC_000009.12:133209173:G:A
Gene:: OBP2B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000026/1 (ExAC)
A=0.000035/1 (TOMMO)
A=0.000037/7 (GnomAD_exomes)
HGVS:: NC_000009.12:g.133209174G>A, NC_000009.11:g.136084561G>A, NW_009646201.1:g.35120G>A, NW_003315925.1:g.35120G>A, NM_014581.4:c.26C>T, NM_014581.3:c.26C>T, NM_014581.2:c.26C>T, NM_001288987.2:c.26C>T, NM_001288987.1:c.26C>T, NR_110242.2:n.77C>T, NR_110242.1:n.77C>T, XM_017014654.2:c.182C>T, XM_017014654.1:c.182C>T, NR_110243.2:n.77C>T, NR_110243.1:n.77C>T, XM_047423295.1:c.182C>T, NP_055396.1:p.Thr9Met, NP_001275916.1:p.Thr9Met, XP_016870143.1:p.Thr61Met, XP_047279251.1:p.Thr61Met

Select item 146369006317.

rs1463690063 has merged into rs781838972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:133208148 (GRCh38)
9:136083535 (GRCh37)
Canonical SPDI:: NC_000009.12:133208147:C:T
Gene:: OBP2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000016/4 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.00003/8 (TOPMED)
T=0.000034/4 (ExAC)
HGVS:: NC_000009.12:g.133208148C>T, NC_000009.11:g.136083535C>T, NW_009646201.1:g.34094C>T, NW_003315925.1:g.34094C>T, XM_006717086.4:c.163G>A, XM_006717086.3:c.163G>A, XM_006717086.2:c.163G>A, XM_006717086.1:c.163G>A, NM_014581.4:c.262G>A, NM_014581.3:c.262G>A, NM_014581.2:c.262G>A, XM_017014654.2:c.418G>A, XM_017014654.1:c.418G>A, NR_110242.2:n.313G>A, NR_110242.1:n.313G>A, NR_110243.2:n.179G>A, NR_110243.1:n.179G>A, NM_001288987.2:c.262G>A, NM_001288987.1:c.262G>A, XM_047423295.1:c.418G>A, XP_006717149.1:p.Gly55Ser, NP_055396.1:p.Gly88Ser, XP_016870143.1:p.Gly140Ser, NP_001275916.1:p.Gly88Ser, XP_047279251.1:p.Gly140Ser

Select item 146179634018.

rs1461796340 has merged into rs781888386 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:133208549 (GRCh38)
9:136083936 (GRCh37)
Canonical SPDI:: NC_000009.12:133208548:C:A,NC_000009.12:133208548:C:T
Gene:: OBP2B (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000064/6 (ExAC)
HGVS:: NC_000009.12:g.133208549C>A, NC_000009.12:g.133208549C>T, NC_000009.11:g.136083936C>A, NC_000009.11:g.136083936C>T, NW_009646201.1:g.34495C>A, NW_009646201.1:g.34495C>T, NW_003315925.1:g.34495C>A, NW_003315925.1:g.34495C>T, XM_006717086.4:c.27G>T, XM_006717086.4:c.27G>A, XM_006717086.3:c.27G>T, XM_006717086.3:c.27G>A, XM_006717086.2:c.27G>T, XM_006717086.2:c.27G>A, XM_006717086.1:c.27G>T, XM_006717086.1:c.27G>A, NM_014581.4:c.126G>T, NM_014581.4:c.126G>A, NM_014581.3:c.126G>T, NM_014581.3:c.126G>A, NM_014581.2:c.126G>T, NM_014581.2:c.126G>A, NM_001288987.2:c.126G>T, NM_001288987.2:c.126G>A, NM_001288987.1:c.126G>T, NM_001288987.1:c.126G>A, XM_017014654.2:c.282G>T, XM_017014654.2:c.282G>A, XM_017014654.1:c.282G>T, XM_017014654.1:c.282G>A, NR_110242.2:n.177G>T, NR_110242.2:n.177G>A, NR_110242.1:n.177G>T, NR_110242.1:n.177G>A, XM_047423295.1:c.282G>T, XM_047423295.1:c.282G>A, XP_006717149.1:p.Glu9Asp, NP_055396.1:p.Glu42Asp, NP_001275916.1:p.Glu42Asp, XP_016870143.1:p.Glu94Asp, XP_047279251.1:p.Glu94Asp

Select item 145605799319.

rs1456057993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:133206316 (GRCh38)
9:136081703 (GRCh37)
Canonical SPDI:: NC_000009.12:133206315:C:A,NC_000009.12:133206315:C:T
Gene:: OBP2B (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.133206316C>A, NC_000009.12:g.133206316C>T, NC_000009.11:g.136081703C>A, NC_000009.11:g.136081703C>T, NW_009646201.1:g.32262C>A, NW_009646201.1:g.32262C>T, NW_003315925.1:g.32262C>A, NW_003315925.1:g.32262C>T, XM_006717086.4:c.390G>T, XM_006717086.4:c.390G>A, XM_006717086.3:c.390G>T, XM_006717086.3:c.390G>A, XM_006717086.2:c.390G>T, XM_006717086.2:c.390G>A, XM_006717086.1:c.390G>T, XM_006717086.1:c.390G>A, NM_014581.4:c.489G>T, NM_014581.4:c.489G>A, NM_014581.3:c.489G>T, NM_014581.3:c.489G>A, NM_014581.2:c.489G>T, NM_014581.2:c.489G>A, XM_017014654.2:c.645G>T, XM_017014654.2:c.645G>A, XM_017014654.1:c.645G>T, XM_017014654.1:c.645G>A, NR_110242.2:n.646G>T, NR_110242.2:n.646G>A, NR_110242.1:n.646G>T, NR_110242.1:n.646G>A, NR_110243.2:n.406G>T, NR_110243.2:n.406G>A, NR_110243.1:n.406G>T, NR_110243.1:n.406G>A, NM_001288987.2:c.489G>T, NM_001288987.2:c.489G>A, NM_001288987.1:c.489G>T, NM_001288987.1:c.489G>A, XM_047423295.1:c.645G>T, XM_047423295.1:c.645G>A

Select item 145275140520.

rs1452751405 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:133208597 (GRCh38)
9:136083984 (GRCh37)
Canonical SPDI:: NC_000009.12:133208596:T:G
Gene:: OBP2B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.133208597T>G, NC_000009.11:g.136083984T>G, NW_009646201.1:g.34543T>G, NW_003315925.1:g.34543T>G, XM_006717086.4:c.-22A>C, XM_006717086.3:c.-22A>C, XM_006717086.2:c.-22A>C, XM_006717086.1:c.-22A>C, NM_014581.4:c.78A>C, NM_014581.3:c.78A>C, NM_014581.2:c.78A>C, NM_001288987.2:c.78A>C, NM_001288987.1:c.78A>C, XM_017014654.2:c.234A>C, XM_017014654.1:c.234A>C, NR_110242.2:n.129A>C, NR_110242.1:n.129A>C, XM_047423295.1:c.234A>C

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