SNP Links for Protein (Select 1034568063) - SNP

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Links from Protein

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Select item 14904670671.

rs1490467067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:19324019 (GRCh38)
10:19612948 (GRCh37)
Canonical SPDI:: NC_000010.11:19324018:C:G
Gene:: MALRD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.19324019C>G, NC_000010.10:g.19612948C>G, XM_011519453.3:c.3550C>G, XM_011519453.2:c.3550C>G, XM_011519453.1:c.3550C>G, XM_011519455.3:c.3376C>G, XM_011519455.2:c.3376C>G, XM_011519455.1:c.3376C>G, NM_001142308.3:c.3490C>G, NM_001142308.2:c.3490C>G, XM_017016183.2:c.3550C>G, XM_017016183.1:c.3550C>G, XM_011519454.2:c.3469C>G, XM_011519454.1:c.3469C>G, XM_017016182.1:c.3277C>G, XM_047425167.1:c.3550C>G, XM_017016184.1:c.1750C>G, XM_017016185.1:c.1750C>G, XM_017016186.1:c.292C>G, XP_011517755.1:p.Leu1184Val, XP_011517757.1:p.Leu1126Val, NP_001135780.2:p.Leu1164Val, XP_016871672.1:p.Leu1184Val, XP_011517756.1:p.Leu1157Val, XP_016871671.1:p.Leu1093Val, XP_047281123.1:p.Leu1184Val, XP_016871673.1:p.Leu584Val, XP_016871674.1:p.Leu584Val, XP_016871675.1:p.Leu98Val

Select item 14904523482.

rs1490452348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:19324085 (GRCh38)
10:19613014 (GRCh37)
Canonical SPDI:: NC_000010.11:19324084:G:A
Gene:: MALRD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.19324085G>A, NC_000010.10:g.19613014G>A, XM_011519453.3:c.3616G>A, XM_011519453.2:c.3616G>A, XM_011519453.1:c.3616G>A, XM_011519455.3:c.3442G>A, XM_011519455.2:c.3442G>A, XM_011519455.1:c.3442G>A, NM_001142308.3:c.3556G>A, NM_001142308.2:c.3556G>A, XM_017016183.2:c.3616G>A, XM_017016183.1:c.3616G>A, XM_011519454.2:c.3535G>A, XM_011519454.1:c.3535G>A, XM_017016182.1:c.3343G>A, XM_047425167.1:c.3616G>A, XM_017016184.1:c.1816G>A, XM_017016185.1:c.1816G>A, XM_017016186.1:c.358G>A, XP_011517755.1:p.Ala1206Thr, XP_011517757.1:p.Ala1148Thr, NP_001135780.2:p.Ala1186Thr, XP_016871672.1:p.Ala1206Thr, XP_011517756.1:p.Ala1179Thr, XP_016871671.1:p.Ala1115Thr, XP_047281123.1:p.Ala1206Thr, XP_016871673.1:p.Ala606Thr, XP_016871674.1:p.Ala606Thr, XP_016871675.1:p.Ala120Thr

Select item 14888505283.

rs1488850528 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 10:19531281 (GRCh38)
10:19820210 (GRCh37)
Canonical SPDI:: NC_000010.11:19531280:C:A,NC_000010.11:19531280:C:G
Gene:: MALRD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.19531281C>A, NC_000010.11:g.19531281C>G, NC_000010.10:g.19820210C>A, NC_000010.10:g.19820210C>G, XM_011519453.3:c.5468C>A, XM_011519453.3:c.5468C>G, XM_011519453.2:c.5468C>A, XM_011519453.2:c.5468C>G, XM_011519453.1:c.5468C>A, XM_011519453.1:c.5468C>G, XM_011519455.3:c.5294C>A, XM_011519455.3:c.5294C>G, XM_011519455.2:c.5294C>A, XM_011519455.2:c.5294C>G, XM_011519455.1:c.5294C>A, XM_011519455.1:c.5294C>G, NM_001142308.3:c.5408C>A, NM_001142308.3:c.5408C>G, NM_001142308.2:c.5408C>A, NM_001142308.2:c.5408C>G, NM_001142308.1:c.-11C>A, NM_001142308.1:c.-11C>G, XM_017016183.2:c.5468C>A, XM_017016183.2:c.5468C>G, XM_017016183.1:c.5468C>A, XM_017016183.1:c.5468C>G, XM_011519454.2:c.5387C>A, XM_011519454.2:c.5387C>G, XM_011519454.1:c.5387C>A, XM_011519454.1:c.5387C>G, XM_017016182.1:c.5195C>A, XM_017016182.1:c.5195C>G, XM_047425167.1:c.5464C>A, XM_047425167.1:c.5464C>G, XM_017016184.1:c.3668C>A, XM_017016184.1:c.3668C>G, XM_017016185.1:c.3668C>A, XM_017016185.1:c.3668C>G, XM_017016186.1:c.2210C>A, XM_017016186.1:c.2210C>G, XP_011517755.1:p.Ala1823Glu, XP_011517755.1:p.Ala1823Gly, XP_011517757.1:p.Ala1765Glu, XP_011517757.1:p.Ala1765Gly, NP_001135780.2:p.Ala1803Glu, NP_001135780.2:p.Ala1803Gly, XP_016871672.1:p.Ala1823Glu, XP_016871672.1:p.Ala1823Gly, XP_011517756.1:p.Ala1796Glu, XP_011517756.1:p.Ala1796Gly, XP_016871671.1:p.Ala1732Glu, XP_016871671.1:p.Ala1732Gly, XP_047281123.1:p.Gln1822Lys, XP_047281123.1:p.Gln1822Glu, XP_016871673.1:p.Ala1223Glu, XP_016871673.1:p.Ala1223Gly, XP_016871674.1:p.Ala1223Glu, XP_016871674.1:p.Ala1223Gly, XP_016871675.1:p.Ala737Glu, XP_016871675.1:p.Ala737Gly

Select item 14888453944.

rs1488845394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:19352015 (GRCh38)
10:19640944 (GRCh37)
Canonical SPDI:: NC_000010.11:19352014:C:T
Gene:: MALRD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.19352015C>T, NC_000010.10:g.19640944C>T, XM_011519453.3:c.4219C>T, XM_011519453.2:c.4219C>T, XM_011519453.1:c.4219C>T, XM_011519455.3:c.4045C>T, XM_011519455.2:c.4045C>T, XM_011519455.1:c.4045C>T, NM_001142308.3:c.4159C>T, NM_001142308.2:c.4159C>T, XM_017016183.2:c.4219C>T, XM_017016183.1:c.4219C>T, XM_011519454.2:c.4138C>T, XM_011519454.1:c.4138C>T, XM_017016182.1:c.3946C>T, XM_047425167.1:c.4219C>T, XM_017016184.1:c.2419C>T, XM_017016185.1:c.2419C>T, XM_017016186.1:c.961C>T, XP_011517755.1:p.His1407Tyr, XP_011517757.1:p.His1349Tyr, NP_001135780.2:p.His1387Tyr, XP_016871672.1:p.His1407Tyr, XP_011517756.1:p.His1380Tyr, XP_016871671.1:p.His1316Tyr, XP_047281123.1:p.His1407Tyr, XP_016871673.1:p.His807Tyr, XP_016871674.1:p.His807Tyr, XP_016871675.1:p.His321Tyr

Select item 14888157245.

rs1488815724 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:19387679 (GRCh38)
10:19676608 (GRCh37)
Canonical SPDI:: NC_000010.11:19387678:A:G
Gene:: MALRD1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000007/1 (GnomAD_exomes)
G=0.000042/11 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000010.11:g.19387679A>G, NC_000010.10:g.19676608A>G, XM_011519453.3:c.4653A>G, XM_011519453.2:c.4653A>G, XM_011519453.1:c.4653A>G, XM_011519455.3:c.4479A>G, XM_011519455.2:c.4479A>G, XM_011519455.1:c.4479A>G, NM_001142308.3:c.4593A>G, NM_001142308.2:c.4593A>G, XM_017016183.2:c.4653A>G, XM_017016183.1:c.4653A>G, XM_011519454.2:c.4572A>G, XM_011519454.1:c.4572A>G, XM_017016182.1:c.4380A>G, XM_047425167.1:c.4653A>G, XM_017016184.1:c.2853A>G, XM_017016185.1:c.2853A>G, XM_017016186.1:c.1395A>G

Select item 14887272016.

rs1488727201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:19205177 (GRCh38)
10:19494106 (GRCh37)
Canonical SPDI:: NC_000010.11:19205176:G:A
Gene:: MALRD1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.19205177G>A, NC_000010.10:g.19494106G>A, XM_011519453.3:c.2550G>A, XM_011519453.2:c.2550G>A, XM_011519453.1:c.2550G>A, XM_011519455.3:c.2376G>A, XM_011519455.2:c.2376G>A, XM_011519455.1:c.2376G>A, NM_001142308.3:c.2490G>A, NM_001142308.2:c.2490G>A, XM_017016183.2:c.2550G>A, XM_017016183.1:c.2550G>A, XM_011519454.2:c.2469G>A, XM_011519454.1:c.2469G>A, XM_017016182.1:c.2277G>A, XM_047425167.1:c.2550G>A, XM_017016184.1:c.750G>A, XM_017016185.1:c.750G>A, XM_047425168.1:c.2550G>A, XP_011517755.1:p.Trp850Ter, XP_011517757.1:p.Trp792Ter, NP_001135780.2:p.Trp830Ter, XP_016871672.1:p.Trp850Ter, XP_011517756.1:p.Trp823Ter, XP_016871671.1:p.Trp759Ter, XP_047281123.1:p.Trp850Ter, XP_016871673.1:p.Trp250Ter, XP_016871674.1:p.Trp250Ter, XP_047281124.1:p.Trp850Ter

Select item 14881033837.

rs1488103383 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:19387593 (GRCh38)
10:19676522 (GRCh37)
Canonical SPDI:: NC_000010.11:19387592:A:G
Gene:: MALRD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.19387593A>G, NC_000010.10:g.19676522A>G, XM_011519453.3:c.4567A>G, XM_011519453.2:c.4567A>G, XM_011519453.1:c.4567A>G, XM_011519455.3:c.4393A>G, XM_011519455.2:c.4393A>G, XM_011519455.1:c.4393A>G, NM_001142308.3:c.4507A>G, NM_001142308.2:c.4507A>G, XM_017016183.2:c.4567A>G, XM_017016183.1:c.4567A>G, XM_011519454.2:c.4486A>G, XM_011519454.1:c.4486A>G, XM_017016182.1:c.4294A>G, XM_047425167.1:c.4567A>G, XM_017016184.1:c.2767A>G, XM_017016185.1:c.2767A>G, XM_017016186.1:c.1309A>G, XP_011517755.1:p.Asn1523Asp, XP_011517757.1:p.Asn1465Asp, NP_001135780.2:p.Asn1503Asp, XP_016871672.1:p.Asn1523Asp, XP_011517756.1:p.Asn1496Asp, XP_016871671.1:p.Asn1432Asp, XP_047281123.1:p.Asn1523Asp, XP_016871673.1:p.Asn923Asp, XP_016871674.1:p.Asn923Asp, XP_016871675.1:p.Asn437Asp

Select item 14873692598.

rs1487369259 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:19491539 (GRCh38)
10:19780468 (GRCh37)
Canonical SPDI:: NC_000010.11:19491538:T:C
Gene:: MALRD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_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_000010.11:g.19491539T>C, NC_000010.10:g.19780468T>C, XM_011519453.3:c.5112T>C, XM_011519453.2:c.5112T>C, XM_011519453.1:c.5112T>C, XM_011519455.3:c.4938T>C, XM_011519455.2:c.4938T>C, XM_011519455.1:c.4938T>C, NM_001142308.3:c.5052T>C, NM_001142308.2:c.5052T>C, NM_001142308.1:c.-367T>C, XM_017016183.2:c.5112T>C, XM_017016183.1:c.5112T>C, XM_011519454.2:c.5031T>C, XM_011519454.1:c.5031T>C, XM_017016182.1:c.4839T>C, XM_047425167.1:c.5112T>C, XM_017016184.1:c.3312T>C, XM_017016185.1:c.3312T>C, XM_017016186.1:c.1854T>C

Select item 14872827619.

rs1487282761 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 10:19567600 (GRCh38)
10:19856529 (GRCh37)
Canonical SPDI:: NC_000010.11:19567599:T:
Gene:: MALRD1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,frameshift_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00004/6 (GnomAD_exomes)
-=0.000043/6 (GnomAD)
-=0.000128/34 (TOPMED)
HGVS:: NC_000010.11:g.19567600del, NC_000010.10:g.19856529del, XM_011519453.3:c.5637del, XM_011519453.2:c.5637del, XM_011519453.1:c.5637del, XM_011519455.3:c.5463del, XM_011519455.2:c.5463del, XM_011519455.1:c.5463del, NM_001142308.3:c.5577del, NM_001142308.2:c.5577del, NM_001142308.1:c.159del, XM_017016183.2:c.5637del, XM_017016183.1:c.5637del, XM_011519454.2:c.5556del, XM_011519454.1:c.5556del, XM_017016182.1:c.5364del, XM_017016184.1:c.3837del, XM_017016185.1:c.3837del, XM_017016186.1:c.2379del, XP_011517755.1:p.Ser1879fs, XP_011517757.1:p.Ser1821fs, NP_001135780.2:p.Ser1859fs, XP_016871672.1:p.Ser1879fs, XP_011517756.1:p.Ser1852fs, XP_016871671.1:p.Ser1788fs, XP_016871673.1:p.Ser1279fs, XP_016871674.1:p.Ser1279fs, XP_016871675.1:p.Ser793fs

Select item 148711493910.

rs1487114939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:19347862 (GRCh38)
10:19636791 (GRCh37)
Canonical SPDI:: NC_000010.11:19347861:C:G
Gene:: MALRD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
HGVS:: NC_000010.11:g.19347862C>G, NC_000010.10:g.19636791C>G, XM_011519453.3:c.4053C>G, XM_011519453.2:c.4053C>G, XM_011519453.1:c.4053C>G, XM_011519455.3:c.3879C>G, XM_011519455.2:c.3879C>G, XM_011519455.1:c.3879C>G, NM_001142308.3:c.3993C>G, NM_001142308.2:c.3993C>G, XM_017016183.2:c.4053C>G, XM_017016183.1:c.4053C>G, XM_011519454.2:c.3972C>G, XM_011519454.1:c.3972C>G, XM_017016182.1:c.3780C>G, XM_047425167.1:c.4053C>G, XM_017016184.1:c.2253C>G, XM_017016185.1:c.2253C>G, XM_017016186.1:c.795C>G, XP_011517755.1:p.Ser1351Arg, XP_011517757.1:p.Ser1293Arg, NP_001135780.2:p.Ser1331Arg, XP_016871672.1:p.Ser1351Arg, XP_011517756.1:p.Ser1324Arg, XP_016871671.1:p.Ser1260Arg, XP_047281123.1:p.Ser1351Arg, XP_016871673.1:p.Ser751Arg, XP_016871674.1:p.Ser751Arg, XP_016871675.1:p.Ser265Arg

Select item 148645148611.

rs1486451486 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:19203750 (GRCh38)
10:19492679 (GRCh37)
Canonical SPDI:: NC_000010.11:19203749:A:G
Gene:: MALRD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.19203750A>G, NC_000010.10:g.19492679A>G, XM_011519453.3:c.2034A>G, XM_011519453.2:c.2034A>G, XM_011519453.1:c.2034A>G, XM_011519455.3:c.1860A>G, XM_011519455.2:c.1860A>G, XM_011519455.1:c.1860A>G, NM_001142308.3:c.1974A>G, NM_001142308.2:c.1974A>G, XM_017016183.2:c.2034A>G, XM_017016183.1:c.2034A>G, XM_011519454.2:c.1953A>G, XM_011519454.1:c.1953A>G, XM_017016182.1:c.1761A>G, XM_047425167.1:c.2034A>G, XM_017016184.1:c.234A>G, XM_017016185.1:c.234A>G, XM_047425168.1:c.2034A>G

Select item 148533805812.

rs1485338058 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:19389460 (GRCh38)
10:19678389 (GRCh37)
Canonical SPDI:: NC_000010.11:19389459:A:G
Gene:: MALRD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.19389460A>G, NC_000010.10:g.19678389A>G, XM_011519453.3:c.4756A>G, XM_011519453.2:c.4756A>G, XM_011519453.1:c.4756A>G, XM_011519455.3:c.4582A>G, XM_011519455.2:c.4582A>G, XM_011519455.1:c.4582A>G, NM_001142308.3:c.4696A>G, NM_001142308.2:c.4696A>G, XM_017016183.2:c.4756A>G, XM_017016183.1:c.4756A>G, XM_011519454.2:c.4675A>G, XM_011519454.1:c.4675A>G, XM_017016182.1:c.4483A>G, XM_047425167.1:c.4756A>G, XM_017016184.1:c.2956A>G, XM_017016185.1:c.2956A>G, XM_017016186.1:c.1498A>G, XP_011517755.1:p.Met1586Val, XP_011517757.1:p.Met1528Val, NP_001135780.2:p.Met1566Val, XP_016871672.1:p.Met1586Val, XP_011517756.1:p.Met1559Val, XP_016871671.1:p.Met1495Val, XP_047281123.1:p.Met1586Val, XP_016871673.1:p.Met986Val, XP_016871674.1:p.Met986Val, XP_016871675.1:p.Met500Val

Select item 148482893713.

rs1484828937 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:19389530 (GRCh38)
10:19678459 (GRCh37)
Canonical SPDI:: NC_000010.11:19389529:A:G
Gene:: MALRD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.19389530A>G, NC_000010.10:g.19678459A>G, XM_011519453.3:c.4826A>G, XM_011519453.2:c.4826A>G, XM_011519453.1:c.4826A>G, XM_011519455.3:c.4652A>G, XM_011519455.2:c.4652A>G, XM_011519455.1:c.4652A>G, NM_001142308.3:c.4766A>G, NM_001142308.2:c.4766A>G, XM_017016183.2:c.4826A>G, XM_017016183.1:c.4826A>G, XM_011519454.2:c.4745A>G, XM_011519454.1:c.4745A>G, XM_017016182.1:c.4553A>G, XM_047425167.1:c.4826A>G, XM_017016184.1:c.3026A>G, XM_017016185.1:c.3026A>G, XM_017016186.1:c.1568A>G, XP_011517755.1:p.Glu1609Gly, XP_011517757.1:p.Glu1551Gly, NP_001135780.2:p.Glu1589Gly, XP_016871672.1:p.Glu1609Gly, XP_011517756.1:p.Glu1582Gly, XP_016871671.1:p.Glu1518Gly, XP_047281123.1:p.Glu1609Gly, XP_016871673.1:p.Glu1009Gly, XP_016871674.1:p.Glu1009Gly, XP_016871675.1:p.Glu523Gly

Select item 148389574414.

rs1483895744 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:19280090 (GRCh38)
10:19569019 (GRCh37)
Canonical SPDI:: NC_000010.11:19280089:T:A
Gene:: MALRD1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.19280090T>A, NC_000010.10:g.19569019T>A, XM_011519453.3:c.3183T>A, XM_011519453.2:c.3183T>A, XM_011519453.1:c.3183T>A, XM_011519455.3:c.3009T>A, XM_011519455.2:c.3009T>A, XM_011519455.1:c.3009T>A, NM_001142308.3:c.3123T>A, NM_001142308.2:c.3123T>A, XM_017016183.2:c.3183T>A, XM_017016183.1:c.3183T>A, XM_011519454.2:c.3102T>A, XM_011519454.1:c.3102T>A, XM_017016182.1:c.2910T>A, XM_047425167.1:c.3183T>A, XM_017016184.1:c.1383T>A, XM_017016185.1:c.1383T>A, XM_047425168.1:c.3183T>A, XM_017016186.1:c.-76T>A

Select item 148377516315.

rs1483775163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:19205000 (GRCh38)
10:19493929 (GRCh37)
Canonical SPDI:: NC_000010.11:19204999:C:G
Gene:: MALRD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.19205000C>G, NC_000010.10:g.19493929C>G, XM_011519453.3:c.2373C>G, XM_011519453.2:c.2373C>G, XM_011519453.1:c.2373C>G, XM_011519455.3:c.2199C>G, XM_011519455.2:c.2199C>G, XM_011519455.1:c.2199C>G, NM_001142308.3:c.2313C>G, NM_001142308.2:c.2313C>G, XM_017016183.2:c.2373C>G, XM_017016183.1:c.2373C>G, XM_011519454.2:c.2292C>G, XM_011519454.1:c.2292C>G, XM_017016182.1:c.2100C>G, XM_047425167.1:c.2373C>G, XM_017016184.1:c.573C>G, XM_017016185.1:c.573C>G, XM_047425168.1:c.2373C>G

Select item 148367969716.

rs1483679697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:19607813 (GRCh38)
10:19896742 (GRCh37)
Canonical SPDI:: NC_000010.11:19607812:C:T
Gene:: MALRD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_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_000010.11:g.19607813C>T, NC_000010.10:g.19896742C>T, XM_011519453.3:c.6041C>T, XM_011519453.2:c.6041C>T, XM_011519453.1:c.6041C>T, XM_011519455.3:c.5867C>T, XM_011519455.2:c.5867C>T, XM_011519455.1:c.5867C>T, NM_001142308.3:c.5981C>T, NM_001142308.2:c.5981C>T, NM_001142308.1:c.563C>T, XM_017016183.2:c.6041C>T, XM_017016183.1:c.6041C>T, XM_011519454.2:c.5960C>T, XM_011519454.1:c.5960C>T, XM_017016182.1:c.5768C>T, XM_017016184.1:c.4241C>T, XM_017016185.1:c.4241C>T, XM_017016186.1:c.2783C>T, XP_011517755.1:p.Ala2014Val, XP_011517757.1:p.Ala1956Val, NP_001135780.2:p.Ala1994Val, XP_016871672.1:p.Ala2014Val, XP_011517756.1:p.Ala1987Val, XP_016871671.1:p.Ala1923Val, XP_016871673.1:p.Ala1414Val, XP_016871674.1:p.Ala1414Val, XP_016871675.1:p.Ala928Val

Select item 148349410017.

rs1483494100 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:19531198 (GRCh38)
10:19820127 (GRCh37)
Canonical SPDI:: NC_000010.11:19531197:T:C
Gene:: MALRD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000087/2 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
C=0.000041/6 (GnomAD_exomes)
HGVS:: NC_000010.11:g.19531198T>C, NC_000010.10:g.19820127T>C, XM_011519453.3:c.5385T>C, XM_011519453.2:c.5385T>C, XM_011519453.1:c.5385T>C, XM_011519455.3:c.5211T>C, XM_011519455.2:c.5211T>C, XM_011519455.1:c.5211T>C, NM_001142308.3:c.5325T>C, NM_001142308.2:c.5325T>C, NM_001142308.1:c.-94T>C, XM_017016183.2:c.5385T>C, XM_017016183.1:c.5385T>C, XM_011519454.2:c.5304T>C, XM_011519454.1:c.5304T>C, XM_017016182.1:c.5112T>C, XM_047425167.1:c.5381T>C, XM_017016184.1:c.3585T>C, XM_017016185.1:c.3585T>C, XM_017016186.1:c.2127T>C, XP_047281123.1:p.Val1794Ala

Select item 148220686718.

rs1482206867 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:19323953 (GRCh38)
10:19612882 (GRCh37)
Canonical SPDI:: NC_000010.11:19323952:A:G,NC_000010.11:19323952:A:T
Gene:: MALRD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.19323953A>G, NC_000010.11:g.19323953A>T, NC_000010.10:g.19612882A>G, NC_000010.10:g.19612882A>T, XM_011519453.3:c.3484A>G, XM_011519453.3:c.3484A>T, XM_011519453.2:c.3484A>G, XM_011519453.2:c.3484A>T, XM_011519453.1:c.3484A>G, XM_011519453.1:c.3484A>T, XM_011519455.3:c.3310A>G, XM_011519455.3:c.3310A>T, XM_011519455.2:c.3310A>G, XM_011519455.2:c.3310A>T, XM_011519455.1:c.3310A>G, XM_011519455.1:c.3310A>T, NM_001142308.3:c.3424A>G, NM_001142308.3:c.3424A>T, NM_001142308.2:c.3424A>G, NM_001142308.2:c.3424A>T, XM_017016183.2:c.3484A>G, XM_017016183.2:c.3484A>T, XM_017016183.1:c.3484A>G, XM_017016183.1:c.3484A>T, XM_011519454.2:c.3403A>G, XM_011519454.2:c.3403A>T, XM_011519454.1:c.3403A>G, XM_011519454.1:c.3403A>T, XM_017016182.1:c.3211A>G, XM_017016182.1:c.3211A>T, XM_047425167.1:c.3484A>G, XM_047425167.1:c.3484A>T, XM_017016184.1:c.1684A>G, XM_017016184.1:c.1684A>T, XM_017016185.1:c.1684A>G, XM_017016185.1:c.1684A>T, XM_017016186.1:c.226A>G, XM_017016186.1:c.226A>T, XP_011517755.1:p.Thr1162Ala, XP_011517755.1:p.Thr1162Ser, XP_011517757.1:p.Thr1104Ala, XP_011517757.1:p.Thr1104Ser, NP_001135780.2:p.Thr1142Ala, NP_001135780.2:p.Thr1142Ser, XP_016871672.1:p.Thr1162Ala, XP_016871672.1:p.Thr1162Ser, XP_011517756.1:p.Thr1135Ala, XP_011517756.1:p.Thr1135Ser, XP_016871671.1:p.Thr1071Ala, XP_016871671.1:p.Thr1071Ser, XP_047281123.1:p.Thr1162Ala, XP_047281123.1:p.Thr1162Ser, XP_016871673.1:p.Thr562Ala, XP_016871673.1:p.Thr562Ser, XP_016871674.1:p.Thr562Ala, XP_016871674.1:p.Thr562Ser, XP_016871675.1:p.Thr76Ala, XP_016871675.1:p.Thr76Ser

Select item 148210426319.

rs1482104263 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:19331369 (GRCh38)
10:19620298 (GRCh37)
Canonical SPDI:: NC_000010.11:19331368:A:T
Gene:: MALRD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.19331369A>T, NC_000010.10:g.19620298A>T, XM_011519453.3:c.3748A>T, XM_011519453.2:c.3748A>T, XM_011519453.1:c.3748A>T, XM_011519455.3:c.3574A>T, XM_011519455.2:c.3574A>T, XM_011519455.1:c.3574A>T, NM_001142308.3:c.3688A>T, NM_001142308.2:c.3688A>T, XM_017016183.2:c.3748A>T, XM_017016183.1:c.3748A>T, XM_011519454.2:c.3667A>T, XM_011519454.1:c.3667A>T, XM_017016182.1:c.3475A>T, XM_047425167.1:c.3748A>T, XM_017016184.1:c.1948A>T, XM_017016185.1:c.1948A>T, XM_017016186.1:c.490A>T, XP_011517755.1:p.Ile1250Phe, XP_011517757.1:p.Ile1192Phe, NP_001135780.2:p.Ile1230Phe, XP_016871672.1:p.Ile1250Phe, XP_011517756.1:p.Ile1223Phe, XP_016871671.1:p.Ile1159Phe, XP_047281123.1:p.Ile1250Phe, XP_016871673.1:p.Ile650Phe, XP_016871674.1:p.Ile650Phe, XP_016871675.1:p.Ile164Phe

Select item 148205844820.

rs1482058448 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:19203833 (GRCh38)
10:19492762 (GRCh37)
Canonical SPDI:: NC_000010.11:19203832:T:C,NC_000010.11:19203832:T:G
Gene:: MALRD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.19203833T>C, NC_000010.11:g.19203833T>G, NC_000010.10:g.19492762T>C, NC_000010.10:g.19492762T>G, XM_011519453.3:c.2117T>C, XM_011519453.3:c.2117T>G, XM_011519453.2:c.2117T>C, XM_011519453.2:c.2117T>G, XM_011519453.1:c.2117T>C, XM_011519453.1:c.2117T>G, XM_011519455.3:c.1943T>C, XM_011519455.3:c.1943T>G, XM_011519455.2:c.1943T>C, XM_011519455.2:c.1943T>G, XM_011519455.1:c.1943T>C, XM_011519455.1:c.1943T>G, NM_001142308.3:c.2057T>C, NM_001142308.3:c.2057T>G, NM_001142308.2:c.2057T>C, NM_001142308.2:c.2057T>G, XM_017016183.2:c.2117T>C, XM_017016183.2:c.2117T>G, XM_017016183.1:c.2117T>C, XM_017016183.1:c.2117T>G, XM_011519454.2:c.2036T>C, XM_011519454.2:c.2036T>G, XM_011519454.1:c.2036T>C, XM_011519454.1:c.2036T>G, XM_017016182.1:c.1844T>C, XM_017016182.1:c.1844T>G, XM_047425167.1:c.2117T>C, XM_047425167.1:c.2117T>G, XM_017016184.1:c.317T>C, XM_017016184.1:c.317T>G, XM_017016185.1:c.317T>C, XM_017016185.1:c.317T>G, XM_047425168.1:c.2117T>C, XM_047425168.1:c.2117T>G, XP_011517755.1:p.Phe706Ser, XP_011517755.1:p.Phe706Cys, XP_011517757.1:p.Phe648Ser, XP_011517757.1:p.Phe648Cys, NP_001135780.2:p.Phe686Ser, NP_001135780.2:p.Phe686Cys, XP_016871672.1:p.Phe706Ser, XP_016871672.1:p.Phe706Cys, XP_011517756.1:p.Phe679Ser, XP_011517756.1:p.Phe679Cys, XP_016871671.1:p.Phe615Ser, XP_016871671.1:p.Phe615Cys, XP_047281123.1:p.Phe706Ser, XP_047281123.1:p.Phe706Cys, XP_016871673.1:p.Phe106Ser, XP_016871673.1:p.Phe106Cys, XP_016871674.1:p.Phe106Ser, XP_016871674.1:p.Phe106Cys, XP_047281124.1:p.Phe706Ser, XP_047281124.1:p.Phe706Cys

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