SNP Links for Protein (Select 125625352) - SNP

Select item 14872256671.

rs1487225667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:151214044 (GRCh38)
3:150931832 (GRCh37)
Canonical SPDI:: NC_000003.12:151214043:C:A
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.151214044C>A, NC_000003.11:g.150931832C>A, NG_021244.1:g.132157C>A, XM_005247922.4:c.273G>T, XM_005247922.3:c.273G>T, XM_005247922.2:c.273G>T, XM_005247922.1:c.273G>T, NM_014879.4:c.273G>T, NM_014879.3:c.273G>T, XM_011513340.4:c.273G>T, XM_011513340.3:c.273G>T, XM_011513340.2:c.273G>T, XM_011513340.1:c.273G>T, XM_005247923.4:c.273G>T, XM_005247923.3:c.273G>T, XM_005247923.2:c.273G>T, XM_005247923.1:c.273G>T, XM_017007583.3:c.273G>T, XM_017007583.2:c.273G>T, XM_017007583.1:c.273G>T, NM_001081455.2:c.273G>T, NM_001081455.1:c.273G>T

Select item 14830882712.

rs1483088271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:151213442 (GRCh38)
3:150931230 (GRCh37)
Canonical SPDI:: NC_000003.12:151213441:G:T
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.151213442G>T, NC_000003.11:g.150931230G>T, NG_021244.1:g.131555G>T, XM_005247922.4:c.875C>A, XM_005247922.3:c.875C>A, XM_005247922.2:c.875C>A, XM_005247922.1:c.875C>A, NM_014879.4:c.875C>A, NM_014879.3:c.875C>A, XM_011513340.4:c.875C>A, XM_011513340.3:c.875C>A, XM_011513340.2:c.875C>A, XM_011513340.1:c.875C>A, XM_005247923.4:c.875C>A, XM_005247923.3:c.875C>A, XM_005247923.2:c.875C>A, XM_005247923.1:c.875C>A, XM_017007583.3:c.875C>A, XM_017007583.2:c.875C>A, XM_017007583.1:c.875C>A, NM_001081455.2:c.875C>A, NM_001081455.1:c.875C>A, XP_005247979.1:p.Pro292His, NP_055694.3:p.Pro292His, XP_011511642.1:p.Pro292His, XP_005247980.1:p.Pro292His, XP_016863072.1:p.Pro292His, NP_001074924.1:p.Pro292His

Select item 14821058823.

rs1482105882 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:151213784 (GRCh38)
3:150931572 (GRCh37)
Canonical SPDI:: NC_000003.12:151213783:T:G
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.151213784T>G, NC_000003.11:g.150931572T>G, NG_021244.1:g.131897T>G, XM_005247922.4:c.533A>C, XM_005247922.3:c.533A>C, XM_005247922.2:c.533A>C, XM_005247922.1:c.533A>C, NM_014879.4:c.533A>C, NM_014879.3:c.533A>C, XM_011513340.4:c.533A>C, XM_011513340.3:c.533A>C, XM_011513340.2:c.533A>C, XM_011513340.1:c.533A>C, XM_005247923.4:c.533A>C, XM_005247923.3:c.533A>C, XM_005247923.2:c.533A>C, XM_005247923.1:c.533A>C, XM_017007583.3:c.533A>C, XM_017007583.2:c.533A>C, XM_017007583.1:c.533A>C, NM_001081455.2:c.533A>C, NM_001081455.1:c.533A>C, XP_005247979.1:p.Glu178Ala, NP_055694.3:p.Glu178Ala, XP_011511642.1:p.Glu178Ala, XP_005247980.1:p.Glu178Ala, XP_016863072.1:p.Glu178Ala, NP_001074924.1:p.Glu178Ala

Select item 14775050904.

rs1477505090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:151213348 (GRCh38)
3:150931136 (GRCh37)
Canonical SPDI:: NC_000003.12:151213347:G:T
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
HGVS:: NC_000003.12:g.151213348G>T, NC_000003.11:g.150931136G>T, NG_021244.1:g.131461G>T, XM_005247922.4:c.969C>A, XM_005247922.3:c.969C>A, XM_005247922.2:c.969C>A, XM_005247922.1:c.969C>A, NM_014879.4:c.969C>A, NM_014879.3:c.969C>A, XM_011513340.4:c.969C>A, XM_011513340.3:c.969C>A, XM_011513340.2:c.969C>A, XM_011513340.1:c.969C>A, XM_005247923.4:c.969C>A, XM_005247923.3:c.969C>A, XM_005247923.2:c.969C>A, XM_005247923.1:c.969C>A, XM_017007583.3:c.969C>A, XM_017007583.2:c.969C>A, XM_017007583.1:c.969C>A, NM_001081455.2:c.969C>A, NM_001081455.1:c.969C>A

Select item 14763443775.

rs1476344377 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:151214215 (GRCh38)
3:150932003 (GRCh37)
Canonical SPDI:: NC_000003.12:151214214:A:G
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.151214215A>G, NC_000003.11:g.150932003A>G, NG_021244.1:g.132328A>G, XM_005247922.4:c.102T>C, XM_005247922.3:c.102T>C, XM_005247922.2:c.102T>C, XM_005247922.1:c.102T>C, NM_014879.4:c.102T>C, NM_014879.3:c.102T>C, XM_011513340.4:c.102T>C, XM_011513340.3:c.102T>C, XM_011513340.2:c.102T>C, XM_011513340.1:c.102T>C, XM_005247923.4:c.102T>C, XM_005247923.3:c.102T>C, XM_005247923.2:c.102T>C, XM_005247923.1:c.102T>C, XM_017007583.3:c.102T>C, XM_017007583.2:c.102T>C, XM_017007583.1:c.102T>C, NM_001081455.2:c.102T>C, NM_001081455.1:c.102T>C

Select item 14723395046.

rs1472339504 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:151213739 (GRCh38)
3:150931527 (GRCh37)
Canonical SPDI:: NC_000003.12:151213738:G:T
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.151213739G>T, NC_000003.11:g.150931527G>T, NG_021244.1:g.131852G>T, XM_005247922.4:c.578C>A, XM_005247922.3:c.578C>A, XM_005247922.2:c.578C>A, XM_005247922.1:c.578C>A, NM_014879.4:c.578C>A, NM_014879.3:c.578C>A, XM_011513340.4:c.578C>A, XM_011513340.3:c.578C>A, XM_011513340.2:c.578C>A, XM_011513340.1:c.578C>A, XM_005247923.4:c.578C>A, XM_005247923.3:c.578C>A, XM_005247923.2:c.578C>A, XM_005247923.1:c.578C>A, XM_017007583.3:c.578C>A, XM_017007583.2:c.578C>A, XM_017007583.1:c.578C>A, NM_001081455.2:c.578C>A, NM_001081455.1:c.578C>A, XP_005247979.1:p.Ala193Asp, NP_055694.3:p.Ala193Asp, XP_011511642.1:p.Ala193Asp, XP_005247980.1:p.Ala193Asp, XP_016863072.1:p.Ala193Asp, NP_001074924.1:p.Ala193Asp

Select item 14717543077.

rs1471754307 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:151213727 (GRCh38)
3:150931515 (GRCh37)
Canonical SPDI:: NC_000003.12:151213726:A:G
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.151213727A>G, NC_000003.11:g.150931515A>G, NG_021244.1:g.131840A>G, XM_005247922.4:c.590T>C, XM_005247922.3:c.590T>C, XM_005247922.2:c.590T>C, XM_005247922.1:c.590T>C, NM_014879.4:c.590T>C, NM_014879.3:c.590T>C, XM_011513340.4:c.590T>C, XM_011513340.3:c.590T>C, XM_011513340.2:c.590T>C, XM_011513340.1:c.590T>C, XM_005247923.4:c.590T>C, XM_005247923.3:c.590T>C, XM_005247923.2:c.590T>C, XM_005247923.1:c.590T>C, XM_017007583.3:c.590T>C, XM_017007583.2:c.590T>C, XM_017007583.1:c.590T>C, NM_001081455.2:c.590T>C, NM_001081455.1:c.590T>C, XP_005247979.1:p.Ile197Thr, NP_055694.3:p.Ile197Thr, XP_011511642.1:p.Ile197Thr, XP_005247980.1:p.Ile197Thr, XP_016863072.1:p.Ile197Thr, NP_001074924.1:p.Ile197Thr

Select item 14662279388.

rs1466227938 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:151213974 (GRCh38)
3:150931762 (GRCh37)
Canonical SPDI:: NC_000003.12:151213973:T:G
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.151213974T>G, NC_000003.11:g.150931762T>G, NG_021244.1:g.132087T>G, XM_005247922.4:c.343A>C, XM_005247922.3:c.343A>C, XM_005247922.2:c.343A>C, XM_005247922.1:c.343A>C, NM_014879.4:c.343A>C, NM_014879.3:c.343A>C, XM_011513340.4:c.343A>C, XM_011513340.3:c.343A>C, XM_011513340.2:c.343A>C, XM_011513340.1:c.343A>C, XM_005247923.4:c.343A>C, XM_005247923.3:c.343A>C, XM_005247923.2:c.343A>C, XM_005247923.1:c.343A>C, XM_017007583.3:c.343A>C, XM_017007583.2:c.343A>C, XM_017007583.1:c.343A>C, NM_001081455.2:c.343A>C, NM_001081455.1:c.343A>C, XP_005247979.1:p.Ile115Leu, NP_055694.3:p.Ile115Leu, XP_011511642.1:p.Ile115Leu, XP_005247980.1:p.Ile115Leu, XP_016863072.1:p.Ile115Leu, NP_001074924.1:p.Ile115Leu

Select item 14615619719.

rs1461561971 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:151214126 (GRCh38)
3:150931914 (GRCh37)
Canonical SPDI:: NC_000003.12:151214125:A:C,NC_000003.12:151214125:A:G
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.151214126A>C, NC_000003.12:g.151214126A>G, NC_000003.11:g.150931914A>C, NC_000003.11:g.150931914A>G, NG_021244.1:g.132239A>C, NG_021244.1:g.132239A>G, XM_005247922.4:c.191T>G, XM_005247922.4:c.191T>C, XM_005247922.3:c.191T>G, XM_005247922.3:c.191T>C, XM_005247922.2:c.191T>G, XM_005247922.2:c.191T>C, XM_005247922.1:c.191T>G, XM_005247922.1:c.191T>C, NM_014879.4:c.191T>G, NM_014879.4:c.191T>C, NM_014879.3:c.191T>G, NM_014879.3:c.191T>C, XM_011513340.4:c.191T>G, XM_011513340.4:c.191T>C, XM_011513340.3:c.191T>G, XM_011513340.3:c.191T>C, XM_011513340.2:c.191T>G, XM_011513340.2:c.191T>C, XM_011513340.1:c.191T>G, XM_011513340.1:c.191T>C, XM_005247923.4:c.191T>G, XM_005247923.4:c.191T>C, XM_005247923.3:c.191T>G, XM_005247923.3:c.191T>C, XM_005247923.2:c.191T>G, XM_005247923.2:c.191T>C, XM_005247923.1:c.191T>G, XM_005247923.1:c.191T>C, XM_017007583.3:c.191T>G, XM_017007583.3:c.191T>C, XM_017007583.2:c.191T>G, XM_017007583.2:c.191T>C, XM_017007583.1:c.191T>G, XM_017007583.1:c.191T>C, NM_001081455.2:c.191T>G, NM_001081455.2:c.191T>C, NM_001081455.1:c.191T>G, NM_001081455.1:c.191T>C, XP_005247979.1:p.Val64Gly, XP_005247979.1:p.Val64Ala, NP_055694.3:p.Val64Gly, NP_055694.3:p.Val64Ala, XP_011511642.1:p.Val64Gly, XP_011511642.1:p.Val64Ala, XP_005247980.1:p.Val64Gly, XP_005247980.1:p.Val64Ala, XP_016863072.1:p.Val64Gly, XP_016863072.1:p.Val64Ala, NP_001074924.1:p.Val64Gly, NP_001074924.1:p.Val64Ala

Select item 145991210210.

rs1459912102 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:151214012 (GRCh38)
3:150931800 (GRCh37)
Canonical SPDI:: NC_000003.12:151214011:T:C
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant,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_000003.12:g.151214012T>C, NC_000003.11:g.150931800T>C, NG_021244.1:g.132125T>C, XM_005247922.4:c.305A>G, XM_005247922.3:c.305A>G, XM_005247922.2:c.305A>G, XM_005247922.1:c.305A>G, NM_014879.4:c.305A>G, NM_014879.3:c.305A>G, XM_011513340.4:c.305A>G, XM_011513340.3:c.305A>G, XM_011513340.2:c.305A>G, XM_011513340.1:c.305A>G, XM_005247923.4:c.305A>G, XM_005247923.3:c.305A>G, XM_005247923.2:c.305A>G, XM_005247923.1:c.305A>G, XM_017007583.3:c.305A>G, XM_017007583.2:c.305A>G, XM_017007583.1:c.305A>G, NM_001081455.2:c.305A>G, NM_001081455.1:c.305A>G, XP_005247979.1:p.Tyr102Cys, NP_055694.3:p.Tyr102Cys, XP_011511642.1:p.Tyr102Cys, XP_005247980.1:p.Tyr102Cys, XP_016863072.1:p.Tyr102Cys, NP_001074924.1:p.Tyr102Cys

Select item 145776912511.

rs1457769125 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:151213452 (GRCh38)
3:150931240 (GRCh37)
Canonical SPDI:: NC_000003.12:151213451:A:G
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.151213452A>G, NC_000003.11:g.150931240A>G, NG_021244.1:g.131565A>G, XM_005247922.4:c.865T>C, XM_005247922.3:c.865T>C, XM_005247922.2:c.865T>C, XM_005247922.1:c.865T>C, NM_014879.4:c.865T>C, NM_014879.3:c.865T>C, XM_011513340.4:c.865T>C, XM_011513340.3:c.865T>C, XM_011513340.2:c.865T>C, XM_011513340.1:c.865T>C, XM_005247923.4:c.865T>C, XM_005247923.3:c.865T>C, XM_005247923.2:c.865T>C, XM_005247923.1:c.865T>C, XM_017007583.3:c.865T>C, XM_017007583.2:c.865T>C, XM_017007583.1:c.865T>C, NM_001081455.2:c.865T>C, NM_001081455.1:c.865T>C, XP_005247979.1:p.Cys289Arg, NP_055694.3:p.Cys289Arg, XP_011511642.1:p.Cys289Arg, XP_005247980.1:p.Cys289Arg, XP_016863072.1:p.Cys289Arg, NP_001074924.1:p.Cys289Arg

Select item 145688291212.

rs1456882912 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:151213321 (GRCh38)
3:150931109 (GRCh37)
Canonical SPDI:: NC_000003.12:151213320:A:G
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.151213321A>G, NC_000003.11:g.150931109A>G, NG_021244.1:g.131434A>G, XM_005247922.4:c.996T>C, XM_005247922.3:c.996T>C, XM_005247922.2:c.996T>C, XM_005247922.1:c.996T>C, NM_014879.4:c.996T>C, NM_014879.3:c.996T>C, XM_011513340.4:c.996T>C, XM_011513340.3:c.996T>C, XM_011513340.2:c.996T>C, XM_011513340.1:c.996T>C, XM_005247923.4:c.996T>C, XM_005247923.3:c.996T>C, XM_005247923.2:c.996T>C, XM_005247923.1:c.996T>C, XM_017007583.3:c.996T>C, XM_017007583.2:c.996T>C, XM_017007583.1:c.996T>C, NM_001081455.2:c.996T>C, NM_001081455.1:c.996T>C

Select item 145538364513.

rs1455383645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:151213559 (GRCh38)
3:150931347 (GRCh37)
Canonical SPDI:: NC_000003.12:151213558:C:T
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.151213559C>T, NC_000003.11:g.150931347C>T, NG_021244.1:g.131672C>T, XM_005247922.4:c.758G>A, XM_005247922.3:c.758G>A, XM_005247922.2:c.758G>A, XM_005247922.1:c.758G>A, NM_014879.4:c.758G>A, NM_014879.3:c.758G>A, XM_011513340.4:c.758G>A, XM_011513340.3:c.758G>A, XM_011513340.2:c.758G>A, XM_011513340.1:c.758G>A, XM_005247923.4:c.758G>A, XM_005247923.3:c.758G>A, XM_005247923.2:c.758G>A, XM_005247923.1:c.758G>A, XM_017007583.3:c.758G>A, XM_017007583.2:c.758G>A, XM_017007583.1:c.758G>A, NM_001081455.2:c.758G>A, NM_001081455.1:c.758G>A, XP_005247979.1:p.Arg253Lys, NP_055694.3:p.Arg253Lys, XP_011511642.1:p.Arg253Lys, XP_005247980.1:p.Arg253Lys, XP_016863072.1:p.Arg253Lys, NP_001074924.1:p.Arg253Lys

Select item 145341406814.

rs1453414068 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:151213703 (GRCh38)
3:150931491 (GRCh37)
Canonical SPDI:: NC_000003.12:151213702:A:G,NC_000003.12:151213702:A:T
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.151213703A>G, NC_000003.12:g.151213703A>T, NC_000003.11:g.150931491A>G, NC_000003.11:g.150931491A>T, NG_021244.1:g.131816A>G, NG_021244.1:g.131816A>T, XM_005247922.4:c.614T>C, XM_005247922.4:c.614T>A, XM_005247922.3:c.614T>C, XM_005247922.3:c.614T>A, XM_005247922.2:c.614T>C, XM_005247922.2:c.614T>A, XM_005247922.1:c.614T>C, XM_005247922.1:c.614T>A, NM_014879.4:c.614T>C, NM_014879.4:c.614T>A, NM_014879.3:c.614T>C, NM_014879.3:c.614T>A, XM_011513340.4:c.614T>C, XM_011513340.4:c.614T>A, XM_011513340.3:c.614T>C, XM_011513340.3:c.614T>A, XM_011513340.2:c.614T>C, XM_011513340.2:c.614T>A, XM_011513340.1:c.614T>C, XM_011513340.1:c.614T>A, XM_005247923.4:c.614T>C, XM_005247923.4:c.614T>A, XM_005247923.3:c.614T>C, XM_005247923.3:c.614T>A, XM_005247923.2:c.614T>C, XM_005247923.2:c.614T>A, XM_005247923.1:c.614T>C, XM_005247923.1:c.614T>A, XM_017007583.3:c.614T>C, XM_017007583.3:c.614T>A, XM_017007583.2:c.614T>C, XM_017007583.2:c.614T>A, XM_017007583.1:c.614T>C, XM_017007583.1:c.614T>A, NM_001081455.2:c.614T>C, NM_001081455.2:c.614T>A, NM_001081455.1:c.614T>C, NM_001081455.1:c.614T>A, XP_005247979.1:p.Phe205Ser, XP_005247979.1:p.Phe205Tyr, NP_055694.3:p.Phe205Ser, NP_055694.3:p.Phe205Tyr, XP_011511642.1:p.Phe205Ser, XP_011511642.1:p.Phe205Tyr, XP_005247980.1:p.Phe205Ser, XP_005247980.1:p.Phe205Tyr, XP_016863072.1:p.Phe205Ser, XP_016863072.1:p.Phe205Tyr, NP_001074924.1:p.Phe205Ser, NP_001074924.1:p.Phe205Tyr

Select item 145062736915.

rs1450627369 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:151214051 (GRCh38)
3:150931839 (GRCh37)
Canonical SPDI:: NC_000003.12:151214050:A:C
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.151214051A>C, NC_000003.11:g.150931839A>C, NG_021244.1:g.132164A>C, XM_005247922.4:c.266T>G, XM_005247922.3:c.266T>G, XM_005247922.2:c.266T>G, XM_005247922.1:c.266T>G, NM_014879.4:c.266T>G, NM_014879.3:c.266T>G, XM_011513340.4:c.266T>G, XM_011513340.3:c.266T>G, XM_011513340.2:c.266T>G, XM_011513340.1:c.266T>G, XM_005247923.4:c.266T>G, XM_005247923.3:c.266T>G, XM_005247923.2:c.266T>G, XM_005247923.1:c.266T>G, XM_017007583.3:c.266T>G, XM_017007583.2:c.266T>G, XM_017007583.1:c.266T>G, NM_001081455.2:c.266T>G, NM_001081455.1:c.266T>G, XP_005247979.1:p.Leu89Arg, NP_055694.3:p.Leu89Arg, XP_011511642.1:p.Leu89Arg, XP_005247980.1:p.Leu89Arg, XP_016863072.1:p.Leu89Arg, NP_001074924.1:p.Leu89Arg

Select item 144943154016.

rs1449431540 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGTAG [Show Flanks]
Chromosome:: 3:151213468 (GRCh38)
3:150931257 (GRCh37)
Canonical SPDI:: NC_000003.12:151213468:AGTAG:AGTAGAGTAG
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency
MAF:: AGTAG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.151213469_151213473dup, NC_000003.11:g.150931257_150931261dup, NG_021244.1:g.131582_131586dup, XM_005247922.4:c.844_848dup, XM_005247922.3:c.844_848dup, XM_005247922.2:c.844_848dup, XM_005247922.1:c.844_848dup, NM_014879.4:c.844_848dup, NM_014879.3:c.844_848dup, XM_011513340.4:c.844_848dup, XM_011513340.3:c.844_848dup, XM_011513340.2:c.844_848dup, XM_011513340.1:c.844_848dup, XM_005247923.4:c.844_848dup, XM_005247923.3:c.844_848dup, XM_005247923.2:c.844_848dup, XM_005247923.1:c.844_848dup, XM_017007583.3:c.844_848dup, XM_017007583.2:c.844_848dup, XM_017007583.1:c.844_848dup, NM_001081455.2:c.844_848dup, NM_001081455.1:c.844_848dup, XP_005247979.1:p.Ser284fs, NP_055694.3:p.Ser284fs, XP_011511642.1:p.Ser284fs, XP_005247980.1:p.Ser284fs, XP_016863072.1:p.Ser284fs, NP_001074924.1:p.Ser284fs

Select item 144928509817.

rs1449285098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:151213325 (GRCh38)
3:150931113 (GRCh37)
Canonical SPDI:: NC_000003.12:151213324:G:A
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.151213325G>A, NC_000003.11:g.150931113G>A, NG_021244.1:g.131438G>A, XM_005247922.4:c.992C>T, XM_005247922.3:c.992C>T, XM_005247922.2:c.992C>T, XM_005247922.1:c.992C>T, NM_014879.4:c.992C>T, NM_014879.3:c.992C>T, XM_011513340.4:c.992C>T, XM_011513340.3:c.992C>T, XM_011513340.2:c.992C>T, XM_011513340.1:c.992C>T, XM_005247923.4:c.992C>T, XM_005247923.3:c.992C>T, XM_005247923.2:c.992C>T, XM_005247923.1:c.992C>T, XM_017007583.3:c.992C>T, XM_017007583.2:c.992C>T, XM_017007583.1:c.992C>T, NM_001081455.2:c.992C>T, NM_001081455.1:c.992C>T, XP_005247979.1:p.Thr331Ile, NP_055694.3:p.Thr331Ile, XP_011511642.1:p.Thr331Ile, XP_005247980.1:p.Thr331Ile, XP_016863072.1:p.Thr331Ile, NP_001074924.1:p.Thr331Ile

Select item 144316740418.

rs1443167404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:151214169 (GRCh38)
3:150931957 (GRCh37)
Canonical SPDI:: NC_000003.12:151214168:C:A,NC_000003.12:151214168:C:T
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000043/6 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000003.12:g.151214169C>A, NC_000003.12:g.151214169C>T, NC_000003.11:g.150931957C>A, NC_000003.11:g.150931957C>T, NG_021244.1:g.132282C>A, NG_021244.1:g.132282C>T, XM_005247922.4:c.148G>T, XM_005247922.4:c.148G>A, XM_005247922.3:c.148G>T, XM_005247922.3:c.148G>A, XM_005247922.2:c.148G>T, XM_005247922.2:c.148G>A, XM_005247922.1:c.148G>T, XM_005247922.1:c.148G>A, NM_014879.4:c.148G>T, NM_014879.4:c.148G>A, NM_014879.3:c.148G>T, NM_014879.3:c.148G>A, XM_011513340.4:c.148G>T, XM_011513340.4:c.148G>A, XM_011513340.3:c.148G>T, XM_011513340.3:c.148G>A, XM_011513340.2:c.148G>T, XM_011513340.2:c.148G>A, XM_011513340.1:c.148G>T, XM_011513340.1:c.148G>A, XM_005247923.4:c.148G>T, XM_005247923.4:c.148G>A, XM_005247923.3:c.148G>T, XM_005247923.3:c.148G>A, XM_005247923.2:c.148G>T, XM_005247923.2:c.148G>A, XM_005247923.1:c.148G>T, XM_005247923.1:c.148G>A, XM_017007583.3:c.148G>T, XM_017007583.3:c.148G>A, XM_017007583.2:c.148G>T, XM_017007583.2:c.148G>A, XM_017007583.1:c.148G>T, XM_017007583.1:c.148G>A, NM_001081455.2:c.148G>T, NM_001081455.2:c.148G>A, NM_001081455.1:c.148G>T, NM_001081455.1:c.148G>A, XP_005247979.1:p.Val50Leu, XP_005247979.1:p.Val50Met, NP_055694.3:p.Val50Leu, NP_055694.3:p.Val50Met, XP_011511642.1:p.Val50Leu, XP_011511642.1:p.Val50Met, XP_005247980.1:p.Val50Leu, XP_005247980.1:p.Val50Met, XP_016863072.1:p.Val50Leu, XP_016863072.1:p.Val50Met, NP_001074924.1:p.Val50Leu, NP_001074924.1:p.Val50Met

Select item 144225804719.

rs1442258047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:151214130 (GRCh38)
3:150931918 (GRCh37)
Canonical SPDI:: NC_000003.12:151214129:T:C
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.151214130T>C, NC_000003.11:g.150931918T>C, NG_021244.1:g.132243T>C, XM_005247922.4:c.187A>G, XM_005247922.3:c.187A>G, XM_005247922.2:c.187A>G, XM_005247922.1:c.187A>G, NM_014879.4:c.187A>G, NM_014879.3:c.187A>G, XM_011513340.4:c.187A>G, XM_011513340.3:c.187A>G, XM_011513340.2:c.187A>G, XM_011513340.1:c.187A>G, XM_005247923.4:c.187A>G, XM_005247923.3:c.187A>G, XM_005247923.2:c.187A>G, XM_005247923.1:c.187A>G, XM_017007583.3:c.187A>G, XM_017007583.2:c.187A>G, XM_017007583.1:c.187A>G, NM_001081455.2:c.187A>G, NM_001081455.1:c.187A>G, XP_005247979.1:p.Ile63Val, NP_055694.3:p.Ile63Val, XP_011511642.1:p.Ile63Val, XP_005247980.1:p.Ile63Val, XP_016863072.1:p.Ile63Val, NP_001074924.1:p.Ile63Val

Select item 144165694020.

rs1441656940 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:151213801 (GRCh38)
3:150931589 (GRCh37)
Canonical SPDI:: NC_000003.12:151213800:A:G
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.151213801A>G, NC_000003.11:g.150931589A>G, NG_021244.1:g.131914A>G, XM_005247922.4:c.516T>C, XM_005247922.3:c.516T>C, XM_005247922.2:c.516T>C, XM_005247922.1:c.516T>C, NM_014879.4:c.516T>C, NM_014879.3:c.516T>C, XM_011513340.4:c.516T>C, XM_011513340.3:c.516T>C, XM_011513340.2:c.516T>C, XM_011513340.1:c.516T>C, XM_005247923.4:c.516T>C, XM_005247923.3:c.516T>C, XM_005247923.2:c.516T>C, XM_005247923.1:c.516T>C, XM_017007583.3:c.516T>C, XM_017007583.2:c.516T>C, XM_017007583.1:c.516T>C, NM_001081455.2:c.516T>C, NM_001081455.1:c.516T>C

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dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

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Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 350

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