SNP Links for Protein (Select 767940456) - SNP

Select item 14906592321.

rs1490659232 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46168204 (GRCh38)
6:46135941 (GRCh37)
Canonical SPDI:: NC_000006.12:46168203:G:A
Gene:: ENPP5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.46168204G>A, NC_000006.11:g.46135941G>A, NG_033986.1:g.7807C>T, NM_021572.6:c.59C>T, NM_021572.5:c.59C>T, NM_021572.4:c.59C>T, NM_001290072.2:c.59C>T, NM_001290072.1:c.59C>T, XM_005249260.5:c.59C>T, XM_005249260.4:c.59C>T, XM_005249260.3:c.59C>T, XM_005249260.2:c.59C>T, XM_005249260.1:c.59C>T, XM_011514786.4:c.59C>T, XM_011514786.3:c.59C>T, XM_011514786.2:c.59C>T, XM_011514786.1:c.59C>T, NP_067547.1:p.Thr20Ile, NP_001277001.1:p.Thr20Ile, XP_005249317.1:p.Thr20Ile, XP_011513088.1:p.Thr20Ile

Select item 14904222262.

rs1490422226 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:46161658 (GRCh38)
6:46129395 (GRCh37)
Canonical SPDI:: NC_000006.12:46161657:T:C
Gene:: ENPP5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.46161658T>C, NC_000006.11:g.46129395T>C, NG_033986.1:g.14353A>G, NM_021572.6:c.1102A>G, NM_021572.5:c.1102A>G, NM_021572.4:c.1102A>G, NM_001290072.2:c.1102A>G, NM_001290072.1:c.1102A>G, NM_001290073.2:c.820A>G, NM_001290073.1:c.820A>G, XM_005249260.5:c.1102A>G, XM_005249260.4:c.1102A>G, XM_005249260.3:c.1102A>G, XM_005249260.2:c.1102A>G, XM_005249260.1:c.1102A>G, XM_011514786.4:c.1102A>G, XM_011514786.3:c.1102A>G, XM_011514786.2:c.1102A>G, XM_011514786.1:c.1102A>G, NP_067547.1:p.Met368Val, NP_001277001.1:p.Met368Val, NP_001277002.1:p.Met274Val, XP_005249317.1:p.Met368Val, XP_011513088.1:p.Met368Val

Select item 14894063893.

rs1489406389 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46167556 (GRCh38)
6:46135293 (GRCh37)
Canonical SPDI:: NC_000006.12:46167555:G:A
Gene:: ENPP5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000006.12:g.46167556G>A, NC_000006.11:g.46135293G>A, NG_033986.1:g.8455C>T, NM_021572.6:c.707C>T, NM_021572.5:c.707C>T, NM_021572.4:c.707C>T, NM_001290072.2:c.707C>T, NM_001290072.1:c.707C>T, NM_001290073.2:c.425C>T, NM_001290073.1:c.425C>T, XM_005249260.5:c.707C>T, XM_005249260.4:c.707C>T, XM_005249260.3:c.707C>T, XM_005249260.2:c.707C>T, XM_005249260.1:c.707C>T, XM_011514786.4:c.707C>T, XM_011514786.3:c.707C>T, XM_011514786.2:c.707C>T, XM_011514786.1:c.707C>T, NP_067547.1:p.Thr236Ile, NP_001277001.1:p.Thr236Ile, NP_001277002.1:p.Thr142Ile, XP_005249317.1:p.Thr236Ile, XP_011513088.1:p.Thr236Ile

Select item 14893957124.

rs1489395712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:46168076 (GRCh38)
6:46135813 (GRCh37)
Canonical SPDI:: NC_000006.12:46168075:G:C
Gene:: ENPP5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46168076G>C, NC_000006.11:g.46135813G>C, NG_033986.1:g.7935C>G, NM_021572.6:c.187C>G, NM_021572.5:c.187C>G, NM_021572.4:c.187C>G, NM_001290072.2:c.187C>G, NM_001290072.1:c.187C>G, XM_005249260.5:c.187C>G, XM_005249260.4:c.187C>G, XM_005249260.3:c.187C>G, XM_005249260.2:c.187C>G, XM_005249260.1:c.187C>G, XM_011514786.4:c.187C>G, XM_011514786.3:c.187C>G, XM_011514786.2:c.187C>G, XM_011514786.1:c.187C>G, NP_067547.1:p.Gln63Glu, NP_001277001.1:p.Gln63Glu, XP_005249317.1:p.Gln63Glu, XP_011513088.1:p.Gln63Glu

Select item 14890968075.

rs1489096807 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:46167653 (GRCh38)
6:46135390 (GRCh37)
Canonical SPDI:: NC_000006.12:46167652:T:C,NC_000006.12:46167652:T:G
Gene:: ENPP5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.46167653T>C, NC_000006.12:g.46167653T>G, NC_000006.11:g.46135390T>C, NC_000006.11:g.46135390T>G, NG_033986.1:g.8358A>G, NG_033986.1:g.8358A>C, NM_021572.6:c.610A>G, NM_021572.6:c.610A>C, NM_021572.5:c.610A>G, NM_021572.5:c.610A>C, NM_021572.4:c.610A>G, NM_021572.4:c.610A>C, NM_001290072.2:c.610A>G, NM_001290072.2:c.610A>C, NM_001290072.1:c.610A>G, NM_001290072.1:c.610A>C, NM_001290073.2:c.328A>G, NM_001290073.2:c.328A>C, NM_001290073.1:c.328A>G, NM_001290073.1:c.328A>C, XM_005249260.5:c.610A>G, XM_005249260.5:c.610A>C, XM_005249260.4:c.610A>G, XM_005249260.4:c.610A>C, XM_005249260.3:c.610A>G, XM_005249260.3:c.610A>C, XM_005249260.2:c.610A>G, XM_005249260.2:c.610A>C, XM_005249260.1:c.610A>G, XM_005249260.1:c.610A>C, XM_011514786.4:c.610A>G, XM_011514786.4:c.610A>C, XM_011514786.3:c.610A>G, XM_011514786.3:c.610A>C, XM_011514786.2:c.610A>G, XM_011514786.2:c.610A>C, XM_011514786.1:c.610A>G, XM_011514786.1:c.610A>C, NP_067547.1:p.Met204Val, NP_067547.1:p.Met204Leu, NP_001277001.1:p.Met204Val, NP_001277001.1:p.Met204Leu, NP_001277002.1:p.Met110Val, NP_001277002.1:p.Met110Leu, XP_005249317.1:p.Met204Val, XP_005249317.1:p.Met204Leu, XP_011513088.1:p.Met204Val, XP_011513088.1:p.Met204Leu

Select item 14878351396.

rs1487835139 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C [Show Flanks]
Chromosome:: 6:46167912 (GRCh38)
6:46135649 (GRCh37)
Canonical SPDI:: NC_000006.12:46167910:CCC:C,NC_000006.12:46167910:CCC:CC
Gene:: ENPP5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,inframe_indel,stop_gained
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46167912_46167913del, NC_000006.12:g.46167913del, NC_000006.11:g.46135649_46135650del, NC_000006.11:g.46135650del, NG_033986.1:g.8099_8100del, NG_033986.1:g.8100del, NM_021572.6:c.351_352del, NM_021572.6:c.352del, NM_021572.5:c.351_352del, NM_021572.5:c.352del, NM_021572.4:c.351_352del, NM_021572.4:c.352del, NM_001290072.2:c.351_352del, NM_001290072.2:c.352del, NM_001290072.1:c.351_352del, NM_001290072.1:c.352del, NM_001290073.2:c.69_70del, NM_001290073.2:c.70del, NM_001290073.1:c.69_70del, NM_001290073.1:c.70del, XM_005249260.5:c.351_352del, XM_005249260.5:c.352del, XM_005249260.4:c.351_352del, XM_005249260.4:c.352del, XM_005249260.3:c.351_352del, XM_005249260.3:c.352del, XM_005249260.2:c.351_352del, XM_005249260.2:c.352del, XM_005249260.1:c.351_352del, XM_005249260.1:c.352del, XM_011514786.4:c.351_352del, XM_011514786.4:c.352del, XM_011514786.3:c.351_352del, XM_011514786.3:c.352del, XM_011514786.2:c.351_352del, XM_011514786.2:c.352del, XM_011514786.1:c.351_352del, XM_011514786.1:c.352del, NP_067547.1:p.Trp117_Glu118delinsTer, NP_067547.1:p.Glu118fs, NP_001277001.1:p.Trp117_Glu118delinsTer, NP_001277001.1:p.Glu118fs, NP_001277002.1:p.Trp23_Glu24delinsTer, NP_001277002.1:p.Glu24fs, XP_005249317.1:p.Trp117_Glu118delinsTer, XP_005249317.1:p.Glu118fs, XP_011513088.1:p.Trp117_Glu118delinsTer, XP_011513088.1:p.Glu118fs

Select item 14868559197.

rs1486855919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:46168239 (GRCh38)
6:46135976 (GRCh37)
Canonical SPDI:: NC_000006.12:46168238:C:A
Gene:: ENPP5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.46168239C>A, NC_000006.11:g.46135976C>A, NG_033986.1:g.7772G>T, NM_021572.6:c.24G>T, NM_021572.5:c.24G>T, NM_021572.4:c.24G>T, NM_001290072.2:c.24G>T, NM_001290072.1:c.24G>T, XM_005249260.5:c.24G>T, XM_005249260.4:c.24G>T, XM_005249260.3:c.24G>T, XM_005249260.2:c.24G>T, XM_005249260.1:c.24G>T, XM_011514786.4:c.24G>T, XM_011514786.3:c.24G>T, XM_011514786.2:c.24G>T, XM_011514786.1:c.24G>T

Select item 14854123638.

rs1485412363 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:46167729 (GRCh38)
6:46135466 (GRCh37)
Canonical SPDI:: NC_000006.12:46167728:C:A
Gene:: ENPP5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.46167729C>A, NC_000006.11:g.46135466C>A, NG_033986.1:g.8282G>T, NM_021572.6:c.534G>T, NM_021572.5:c.534G>T, NM_021572.4:c.534G>T, NM_001290072.2:c.534G>T, NM_001290072.1:c.534G>T, NM_001290073.2:c.252G>T, NM_001290073.1:c.252G>T, XM_005249260.5:c.534G>T, XM_005249260.4:c.534G>T, XM_005249260.3:c.534G>T, XM_005249260.2:c.534G>T, XM_005249260.1:c.534G>T, XM_011514786.4:c.534G>T, XM_011514786.3:c.534G>T, XM_011514786.2:c.534G>T, XM_011514786.1:c.534G>T, NP_067547.1:p.Glu178Asp, NP_001277001.1:p.Glu178Asp, NP_001277002.1:p.Glu84Asp, XP_005249317.1:p.Glu178Asp, XP_011513088.1:p.Glu178Asp

Select item 14742498529.

rs1474249852 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46167485 (GRCh38)
6:46135222 (GRCh37)
Canonical SPDI:: NC_000006.12:46167484:G:A
Gene:: ENPP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.46167485G>A, NC_000006.11:g.46135222G>A, NG_033986.1:g.8526C>T, NM_021572.6:c.778C>T, NM_021572.5:c.778C>T, NM_021572.4:c.778C>T, NM_001290072.2:c.778C>T, NM_001290072.1:c.778C>T, NM_001290073.2:c.496C>T, NM_001290073.1:c.496C>T, XM_005249260.5:c.778C>T, XM_005249260.4:c.778C>T, XM_005249260.3:c.778C>T, XM_005249260.2:c.778C>T, XM_005249260.1:c.778C>T, XM_011514786.4:c.778C>T, XM_011514786.3:c.778C>T, XM_011514786.2:c.778C>T, XM_011514786.1:c.778C>T, NP_067547.1:p.His260Tyr, NP_001277001.1:p.His260Tyr, NP_001277002.1:p.His166Tyr, XP_005249317.1:p.His260Tyr, XP_011513088.1:p.His260Tyr

Select item 147223014510.

rs1472230145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:46168157 (GRCh38)
6:46135894 (GRCh37)
Canonical SPDI:: NC_000006.12:46168156:C:G
Gene:: ENPP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000006.12:g.46168157C>G, NC_000006.11:g.46135894C>G, NG_033986.1:g.7854G>C, NM_021572.6:c.106G>C, NM_021572.5:c.106G>C, NM_021572.4:c.106G>C, NM_001290072.2:c.106G>C, NM_001290072.1:c.106G>C, XM_005249260.5:c.106G>C, XM_005249260.4:c.106G>C, XM_005249260.3:c.106G>C, XM_005249260.2:c.106G>C, XM_005249260.1:c.106G>C, XM_011514786.4:c.106G>C, XM_011514786.3:c.106G>C, XM_011514786.2:c.106G>C, XM_011514786.1:c.106G>C, NP_067547.1:p.Asp36His, NP_001277001.1:p.Asp36His, XP_005249317.1:p.Asp36His, XP_011513088.1:p.Asp36His

Select item 146961864411.

rs1469618644 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:46161546 (GRCh38)
6:46129283 (GRCh37)
Canonical SPDI:: NC_000006.12:46161545:C:T
Gene:: ENPP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000006.12:g.46161546C>T, NC_000006.11:g.46129283C>T, NG_033986.1:g.14465G>A, NM_021572.6:c.1214G>A, NM_021572.5:c.1214G>A, NM_021572.4:c.1214G>A, NM_001290072.2:c.1214G>A, NM_001290072.1:c.1214G>A, NM_001290073.2:c.932G>A, NM_001290073.1:c.932G>A, XM_005249260.5:c.1214G>A, XM_005249260.4:c.1214G>A, XM_005249260.3:c.1214G>A, XM_005249260.2:c.1214G>A, XM_005249260.1:c.1214G>A, XM_011514786.4:c.1214G>A, XM_011514786.3:c.1214G>A, XM_011514786.2:c.1214G>A, XM_011514786.1:c.1214G>A, NP_067547.1:p.Arg405Lys, NP_001277001.1:p.Arg405Lys, NP_001277002.1:p.Arg311Lys, XP_005249317.1:p.Arg405Lys, XP_011513088.1:p.Arg405Lys

Select item 146866017912.

rs1468660179 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGGTGGC [Show Flanks]
Chromosome:: 6:46167675 (GRCh38)
6:46135413 (GRCh37)
Canonical SPDI:: NC_000006.12:46167675:TGGTGGC:TGGTGGCTGGTGGC
Gene:: ENPP5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: TGGTGGC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46167676_46167682dup, NC_000006.11:g.46135413_46135419dup, NG_033986.1:g.8329_8335dup, NM_021572.6:c.581_587dup, NM_021572.5:c.581_587dup, NM_021572.4:c.581_587dup, NM_001290072.2:c.581_587dup, NM_001290072.1:c.581_587dup, NM_001290073.2:c.299_305dup, NM_001290073.1:c.299_305dup, XM_005249260.5:c.581_587dup, XM_005249260.4:c.581_587dup, XM_005249260.3:c.581_587dup, XM_005249260.2:c.581_587dup, XM_005249260.1:c.581_587dup, XM_011514786.4:c.581_587dup, XM_011514786.3:c.581_587dup, XM_011514786.2:c.581_587dup, XM_011514786.1:c.581_587dup, NP_067547.1:p.His196fs, NP_001277001.1:p.His196fs, NP_001277002.1:p.His102fs, XP_005249317.1:p.His196fs, XP_011513088.1:p.His196fs

Select item 146858184713.

rs1468581847 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:46161692 (GRCh38)
6:46129429 (GRCh37)
Canonical SPDI:: NC_000006.12:46161691:A:T
Gene:: ENPP5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00003/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.46161692A>T, NC_000006.11:g.46129429A>T, NG_033986.1:g.14319T>A, NM_021572.6:c.1068T>A, NM_021572.5:c.1068T>A, NM_021572.4:c.1068T>A, NM_001290072.2:c.1068T>A, NM_001290072.1:c.1068T>A, NM_001290073.2:c.786T>A, NM_001290073.1:c.786T>A, XM_005249260.5:c.1068T>A, XM_005249260.4:c.1068T>A, XM_005249260.3:c.1068T>A, XM_005249260.2:c.1068T>A, XM_005249260.1:c.1068T>A, XM_011514786.4:c.1068T>A, XM_011514786.3:c.1068T>A, XM_011514786.2:c.1068T>A, XM_011514786.1:c.1068T>A

Select item 146726827614.

rs1467268276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:46167749 (GRCh38)
6:46135486 (GRCh37)
Canonical SPDI:: NC_000006.12:46167748:C:T
Gene:: ENPP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.46167749C>T, NC_000006.11:g.46135486C>T, NG_033986.1:g.8262G>A, NM_021572.6:c.514G>A, NM_021572.5:c.514G>A, NM_021572.4:c.514G>A, NM_001290072.2:c.514G>A, NM_001290072.1:c.514G>A, NM_001290073.2:c.232G>A, NM_001290073.1:c.232G>A, XM_005249260.5:c.514G>A, XM_005249260.4:c.514G>A, XM_005249260.3:c.514G>A, XM_005249260.2:c.514G>A, XM_005249260.1:c.514G>A, XM_011514786.4:c.514G>A, XM_011514786.3:c.514G>A, XM_011514786.2:c.514G>A, XM_011514786.1:c.514G>A, NP_067547.1:p.Glu172Lys, NP_001277001.1:p.Glu172Lys, NP_001277002.1:p.Glu78Lys, XP_005249317.1:p.Glu172Lys, XP_011513088.1:p.Glu172Lys

Select item 146712699015.

rs1467126990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:46165399 (GRCh38)
6:46133136 (GRCh37)
Canonical SPDI:: NC_000006.12:46165398:C:T
Gene:: ENPP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000009/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.46165399C>T, NC_000006.11:g.46133136C>T, NG_033986.1:g.10612G>A, NM_021572.6:c.994G>A, NM_021572.5:c.994G>A, NM_021572.4:c.994G>A, NM_001290072.2:c.994G>A, NM_001290072.1:c.994G>A, NM_001290073.2:c.712G>A, NM_001290073.1:c.712G>A, XM_005249260.5:c.994G>A, XM_005249260.4:c.994G>A, XM_005249260.3:c.994G>A, XM_005249260.2:c.994G>A, XM_005249260.1:c.994G>A, XM_011514786.4:c.994G>A, XM_011514786.3:c.994G>A, XM_011514786.2:c.994G>A, XM_011514786.1:c.994G>A, NP_067547.1:p.Asp332Asn, NP_001277001.1:p.Asp332Asn, NP_001277002.1:p.Asp238Asn, XP_005249317.1:p.Asp332Asn, XP_011513088.1:p.Asp332Asn

Select item 146618733716.

rs1466187337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:46168190 (GRCh38)
6:46135927 (GRCh37)
Canonical SPDI:: NC_000006.12:46168189:G:T
Gene:: ENPP5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000006.12:g.46168190G>T, NC_000006.11:g.46135927G>T, NG_033986.1:g.7821C>A, NM_021572.6:c.73C>A, NM_021572.5:c.73C>A, NM_021572.4:c.73C>A, NM_001290072.2:c.73C>A, NM_001290072.1:c.73C>A, XM_005249260.5:c.73C>A, XM_005249260.4:c.73C>A, XM_005249260.3:c.73C>A, XM_005249260.2:c.73C>A, XM_005249260.1:c.73C>A, XM_011514786.4:c.73C>A, XM_011514786.3:c.73C>A, XM_011514786.2:c.73C>A, XM_011514786.1:c.73C>A, NP_067547.1:p.Pro25Thr, NP_001277001.1:p.Pro25Thr, XP_005249317.1:p.Pro25Thr, XP_011513088.1:p.Pro25Thr

Select item 146343611117.

rs1463436111 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:46168108 (GRCh38)
6:46135845 (GRCh37)
Canonical SPDI:: NC_000006.12:46168107:T:A
Gene:: ENPP5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46168108T>A, NC_000006.11:g.46135845T>A, NG_033986.1:g.7903A>T, NM_021572.6:c.155A>T, NM_021572.5:c.155A>T, NM_021572.4:c.155A>T, NM_001290072.2:c.155A>T, NM_001290072.1:c.155A>T, XM_005249260.5:c.155A>T, XM_005249260.4:c.155A>T, XM_005249260.3:c.155A>T, XM_005249260.2:c.155A>T, XM_005249260.1:c.155A>T, XM_011514786.4:c.155A>T, XM_011514786.3:c.155A>T, XM_011514786.2:c.155A>T, XM_011514786.1:c.155A>T, NP_067547.1:p.His52Leu, NP_001277001.1:p.His52Leu, XP_005249317.1:p.His52Leu, XP_011513088.1:p.His52Leu

Select item 145523025418.

rs1455230254 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:46167867 (GRCh38)
6:46135604 (GRCh37)
Canonical SPDI:: NC_000006.12:46167866:A:G
Gene:: ENPP5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.46167867A>G, NC_000006.11:g.46135604A>G, NG_033986.1:g.8144T>C, NM_021572.6:c.396T>C, NM_021572.5:c.396T>C, NM_021572.4:c.396T>C, NM_001290072.2:c.396T>C, NM_001290072.1:c.396T>C, NM_001290073.2:c.114T>C, NM_001290073.1:c.114T>C, XM_005249260.5:c.396T>C, XM_005249260.4:c.396T>C, XM_005249260.3:c.396T>C, XM_005249260.2:c.396T>C, XM_005249260.1:c.396T>C, XM_011514786.4:c.396T>C, XM_011514786.3:c.396T>C, XM_011514786.2:c.396T>C, XM_011514786.1:c.396T>C

Select item 145452107119.

rs1454521071 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:46165393 (GRCh38)
6:46133130 (GRCh37)
Canonical SPDI:: NC_000006.12:46165392:A:G
Gene:: ENPP5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.46165393A>G, NC_000006.11:g.46133130A>G, NG_033986.1:g.10618T>C, NM_021572.6:c.1000T>C, NM_021572.5:c.1000T>C, NM_021572.4:c.1000T>C, NM_001290072.2:c.1000T>C, NM_001290072.1:c.1000T>C, NM_001290073.2:c.718T>C, NM_001290073.1:c.718T>C, XM_005249260.5:c.1000T>C, XM_005249260.4:c.1000T>C, XM_005249260.3:c.1000T>C, XM_005249260.2:c.1000T>C, XM_005249260.1:c.1000T>C, XM_011514786.4:c.1000T>C, XM_011514786.3:c.1000T>C, XM_011514786.2:c.1000T>C, XM_011514786.1:c.1000T>C, NP_067547.1:p.Phe334Leu, NP_001277001.1:p.Phe334Leu, NP_001277002.1:p.Phe240Leu, XP_005249317.1:p.Phe334Leu, XP_011513088.1:p.Phe334Leu

Select item 145248949420.

rs1452489494 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:46161450 (GRCh38)
6:46129187 (GRCh37)
Canonical SPDI:: NC_000006.12:46161449:A:G
Gene:: ENPP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46161450A>G, NC_000006.11:g.46129187A>G, NG_033986.1:g.14561T>C, NM_021572.6:c.1310T>C, NM_021572.5:c.1310T>C, NM_021572.4:c.1310T>C, NM_001290072.2:c.1310T>C, NM_001290072.1:c.1310T>C, NM_001290073.2:c.1028T>C, NM_001290073.1:c.1028T>C, XM_005249260.5:c.1310T>C, XM_005249260.4:c.1310T>C, XM_005249260.3:c.1310T>C, XM_005249260.2:c.1310T>C, XM_005249260.1:c.1310T>C, XM_011514786.4:c.1310T>C, XM_011514786.3:c.1310T>C, XM_011514786.2:c.1310T>C, XM_011514786.1:c.1310T>C, NP_067547.1:p.Val437Ala, NP_001277001.1:p.Val437Ala, NP_001277002.1:p.Val343Ala, XP_005249317.1:p.Val437Ala, XP_011513088.1:p.Val437Ala

dbSNP

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Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 452

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