SNP Links for Protein (Select 58761528) - SNP

Links from Protein

Items: 1 to 20 of 95

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Select item 14886054021.

rs1488605402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49689483 (GRCh38)
X:49454086 (GRCh37)
Canonical SPDI:: NC_000023.11:49689482:C:T
Gene:: PAGE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.49689483C>T, NC_000023.10:g.49454086C>T, NG_012550.1:g.11511G>A, NM_003785.4:c.353G>A, NM_003785.3:c.353G>A, NW_004070880.2:g.1878912C>T, XM_011543998.3:c.353G>A, XM_011543998.2:c.353G>A, XM_011543998.1:c.353G>A, NP_003776.2:p.Gly118Glu, XP_011542300.1:p.Gly118Glu

Select item 14522515182.

rs1452251518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49694140 (GRCh38)
X:49458743 (GRCh37)
Canonical SPDI:: NC_000023.11:49694139:G:A
Gene:: PAGE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.49694140G>A, NC_000023.10:g.49458743G>A, NG_012550.1:g.6854C>T, NM_003785.4:c.125C>T, NM_003785.3:c.125C>T, NW_004070880.2:g.1883569G>A, XM_011543998.3:c.125C>T, XM_011543998.2:c.125C>T, XM_011543998.1:c.125C>T, NP_003776.2:p.Pro42Leu, XP_011542300.1:p.Pro42Leu

Select item 14366873543.

rs1436687354 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:49694166 (GRCh38)
X:49458769 (GRCh37)
Canonical SPDI:: NC_000023.11:49694165:T:C
Gene:: PAGE1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.49694166T>C, NC_000023.10:g.49458769T>C, NG_012550.1:g.6828A>G, NM_003785.4:c.99A>G, NM_003785.3:c.99A>G, NW_004070880.2:g.1883595T>C, XM_011543998.3:c.99A>G, XM_011543998.2:c.99A>G, XM_011543998.1:c.99A>G

Select item 14318319034.

rs1431831903 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49689520 (GRCh38)
X:49454123 (GRCh37)
Canonical SPDI:: NC_000023.11:49689519:G:A
Gene:: PAGE1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.49689520G>A, NC_000023.10:g.49454123G>A, NG_012550.1:g.11474C>T, NM_003785.4:c.316C>T, NM_003785.3:c.316C>T, NW_004070880.2:g.1878949G>A, XM_011543998.3:c.316C>T, XM_011543998.2:c.316C>T, XM_011543998.1:c.316C>T, NP_003776.2:p.Gln106Ter, XP_011542300.1:p.Gln106Ter

Select item 14013052385.

rs1401305238 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:49691368 (GRCh38)
X:49455971 (GRCh37)
Canonical SPDI:: NC_000023.11:49691367:T:C
Gene:: PAGE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.49691368T>C, NC_000023.10:g.49455971T>C, NG_012550.1:g.9626A>G, NM_003785.4:c.173A>G, NM_003785.3:c.173A>G, NW_004070880.2:g.1880797T>C, XM_011543998.3:c.173A>G, XM_011543998.2:c.173A>G, XM_011543998.1:c.173A>G, NP_003776.2:p.Glu58Gly, XP_011542300.1:p.Glu58Gly

Select item 13908451936.

rs1390845193 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:49689446 (GRCh38)
X:49454049 (GRCh37)
Canonical SPDI:: NC_000023.11:49689445:A:G
Gene:: PAGE1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.49689446A>G, NC_000023.10:g.49454049A>G, NG_012550.1:g.11548T>C, NM_003785.4:c.390T>C, NM_003785.3:c.390T>C, NW_004070880.2:g.1878875A>G, XM_011543998.3:c.390T>C, XM_011543998.2:c.390T>C, XM_011543998.1:c.390T>C

Select item 13907133917.

rs1390713391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:49687555 (GRCh38)
X:49452158 (GRCh37)
Canonical SPDI:: NC_000023.11:49687554:G:A,NC_000023.11:49687554:G:C
Gene:: PAGE1 (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.49687555G>A, NC_000023.11:g.49687555G>C, NC_000023.10:g.49452158G>A, NC_000023.10:g.49452158G>C, NG_012550.1:g.13439C>T, NG_012550.1:g.13439C>G, NM_003785.4:c.427C>T, NM_003785.4:c.427C>G, NM_003785.3:c.427C>T, NM_003785.3:c.427C>G, NW_004070880.2:g.1876984G>A, NW_004070880.2:g.1876984G>C, XM_011543998.3:c.427C>T, XM_011543998.3:c.427C>G, XM_011543998.2:c.427C>T, XM_011543998.2:c.427C>G, XM_011543998.1:c.427C>T, XM_011543998.1:c.427C>G, NP_003776.2:p.Gln143Ter, NP_003776.2:p.Gln143Glu, XP_011542300.1:p.Gln143Ter, XP_011542300.1:p.Gln143Glu

Select item 13904868358.

rs1390486835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49694113 (GRCh38)
X:49458716 (GRCh37)
Canonical SPDI:: NC_000023.11:49694112:G:A
Gene:: PAGE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.49694113G>A, NC_000023.10:g.49458716G>A, NG_012550.1:g.6881C>T, NM_003785.4:c.152C>T, NM_003785.3:c.152C>T, NW_004070880.2:g.1883542G>A, XM_011543998.3:c.152C>T, XM_011543998.2:c.152C>T, XM_011543998.1:c.152C>T, NP_003776.2:p.Ala51Val, XP_011542300.1:p.Ala51Val

Select item 13757961149.

rs1375796114 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49689536 (GRCh38)
X:49454139 (GRCh37)
Canonical SPDI:: NC_000023.11:49689535:C:T
Gene:: PAGE1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.49689536C>T, NC_000023.10:g.49454139C>T, NG_012550.1:g.11458G>A, NM_003785.4:c.300G>A, NM_003785.3:c.300G>A, NW_004070880.2:g.1878965C>T, XM_011543998.3:c.300G>A, XM_011543998.2:c.300G>A, XM_011543998.1:c.300G>A

Select item 135395610110.

rs1353956101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49691298 (GRCh38)
X:49455901 (GRCh37)
Canonical SPDI:: NC_000023.11:49691297:G:A
Gene:: PAGE1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.49691298G>A, NC_000023.10:g.49455901G>A, NG_012550.1:g.9696C>T, NM_003785.4:c.243C>T, NM_003785.3:c.243C>T, NW_004070880.2:g.1880727G>A, XM_011543998.3:c.243C>T, XM_011543998.2:c.243C>T, XM_011543998.1:c.243C>T

Select item 132980211611.

rs1329802116 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:49689495 (GRCh38)
X:49454098 (GRCh37)
Canonical SPDI:: NC_000023.11:49689494:C:A
Gene:: PAGE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.49689495C>A, NC_000023.10:g.49454098C>A, NG_012550.1:g.11499G>T, NM_003785.4:c.341G>T, NM_003785.3:c.341G>T, NW_004070880.2:g.1878924C>A, XM_011543998.3:c.341G>T, XM_011543998.2:c.341G>T, XM_011543998.1:c.341G>T, NP_003776.2:p.Gly114Val, XP_011542300.1:p.Gly114Val

Select item 129936795512.

rs1299367955 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:49694727 (GRCh38)
X:49459330 (GRCh37)
Canonical SPDI:: NC_000023.11:49694726:A:C
Gene:: PAGE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
C=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.49694727A>C, NC_000023.10:g.49459330A>C, NG_012550.1:g.6267T>G, NM_003785.4:c.44T>G, NM_003785.3:c.44T>G, NW_004070880.2:g.1884156A>C, XM_011543998.3:c.44T>G, XM_011543998.2:c.44T>G, XM_011543998.1:c.44T>G, NP_003776.2:p.Ile15Ser, XP_011542300.1:p.Ile15Ser

Select item 127568429113.

rs1275684291 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:49691352 (GRCh38)
X:49455955 (GRCh37)
Canonical SPDI:: NC_000023.11:49691351:G:T
Gene:: PAGE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.49691352G>T, NC_000023.10:g.49455955G>T, NG_012550.1:g.9642C>A, NM_003785.4:c.189C>A, NM_003785.3:c.189C>A, NW_004070880.2:g.1880781G>T, XM_011543998.3:c.189C>A, XM_011543998.2:c.189C>A, XM_011543998.1:c.189C>A, NP_003776.2:p.Ser63Arg, XP_011542300.1:p.Ser63Arg

Select item 126503121314.

rs1265031213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49689469 (GRCh38)
X:49454072 (GRCh37)
Canonical SPDI:: NC_000023.11:49689468:C:T
Gene:: PAGE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00017/2 (ALFA)
HGVS:: NC_000023.11:g.49689469C>T, NC_000023.10:g.49454072C>T, NG_012550.1:g.11525G>A, NM_003785.4:c.367G>A, NM_003785.3:c.367G>A, NW_004070880.2:g.1878898C>T, XM_011543998.3:c.367G>A, XM_011543998.2:c.367G>A, XM_011543998.1:c.367G>A, NP_003776.2:p.Val123Ile, XP_011542300.1:p.Val123Ile

Select item 126104503515.

rs1261045035 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:49691254 (GRCh38)
X:49455857 (GRCh37)
Canonical SPDI:: NC_000023.11:49691253:G:A,NC_000023.11:49691253:G:T
Gene:: PAGE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.49691254G>A, NC_000023.11:g.49691254G>T, NC_000023.10:g.49455857G>A, NC_000023.10:g.49455857G>T, NG_012550.1:g.9740C>T, NG_012550.1:g.9740C>A, NM_003785.4:c.287C>T, NM_003785.4:c.287C>A, NM_003785.3:c.287C>T, NM_003785.3:c.287C>A, NW_004070880.2:g.1880683G>A, NW_004070880.2:g.1880683G>T, XM_011543998.3:c.287C>T, XM_011543998.3:c.287C>A, XM_011543998.2:c.287C>T, XM_011543998.2:c.287C>A, XM_011543998.1:c.287C>T, XM_011543998.1:c.287C>A, NP_003776.2:p.Ala96Val, NP_003776.2:p.Ala96Glu, XP_011542300.1:p.Ala96Val, XP_011542300.1:p.Ala96Glu

Select item 121135492416.

rs1211354924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49689481 (GRCh38)
X:49454084 (GRCh37)
Canonical SPDI:: NC_000023.11:49689480:C:T
Gene:: PAGE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.49689481C>T, NC_000023.10:g.49454084C>T, NG_012550.1:g.11513G>A, NM_003785.4:c.355G>A, NM_003785.3:c.355G>A, NW_004070880.2:g.1878910C>T, XM_011543998.3:c.355G>A, XM_011543998.2:c.355G>A, XM_011543998.1:c.355G>A, NP_003776.2:p.Asp119Asn, XP_011542300.1:p.Asp119Asn

Select item 105712292717.

rs1057122927 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: X:49694753 (GRCh38)
X:49459356 (GRCh37)
Canonical SPDI:: NC_000023.11:49694752:T:A,NC_000023.11:49694752:T:C
Gene:: PAGE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.49694753T>A, NC_000023.11:g.49694753T>C, NC_000023.10:g.49459356T>A, NC_000023.10:g.49459356T>C, NG_012550.1:g.6241A>T, NG_012550.1:g.6241A>G, NM_003785.4:c.18A>T, NM_003785.4:c.18A>G, NM_003785.3:c.18A>T, NM_003785.3:c.18A>G, NW_004070880.2:g.1884182T>A, NW_004070880.2:g.1884182T>C, XM_011543998.3:c.18A>T, XM_011543998.3:c.18A>G, XM_011543998.2:c.18A>T, XM_011543998.2:c.18A>G, XM_011543998.1:c.18A>T, XM_011543998.1:c.18A>G, NP_003776.2:p.Arg6Ser, XP_011542300.1:p.Arg6Ser

Select item 99060757018.

rs990607570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:49694130 (GRCh38)
X:49458733 (GRCh37)
Canonical SPDI:: NC_000023.11:49694129:C:A
Gene:: PAGE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.49694130C>A, NC_000023.10:g.49458733C>A, NG_012550.1:g.6864G>T, NM_003785.4:c.135G>T, NM_003785.3:c.135G>T, NW_004070880.2:g.1883559C>A, XM_011543998.3:c.135G>T, XM_011543998.2:c.135G>T, XM_011543998.1:c.135G>T, NP_003776.2:p.Glu45Asp, XP_011542300.1:p.Glu45Asp

Select item 97794787919.

rs977947879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:49694194 (GRCh38)
X:49458797 (GRCh37)
Canonical SPDI:: NC_000023.11:49694193:C:G
Gene:: PAGE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/2 (GnomAD)
G=0.000045/12 (TOPMED)
HGVS:: NC_000023.11:g.49694194C>G, NC_000023.10:g.49458797C>G, NG_012550.1:g.6800G>C, NM_003785.4:c.71G>C, NM_003785.3:c.71G>C, NW_004070880.2:g.1883623C>G, XM_011543998.3:c.71G>C, XM_011543998.2:c.71G>C, XM_011543998.1:c.71G>C, NP_003776.2:p.Ser24Thr, XP_011542300.1:p.Ser24Thr

Select item 91865744320.

rs918657443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:49691335 (GRCh38)
X:49455938 (GRCh37)
Canonical SPDI:: NC_000023.11:49691334:G:A,NC_000023.11:49691334:G:T
Gene:: PAGE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.49691335G>A, NC_000023.11:g.49691335G>T, NC_000023.10:g.49455938G>A, NC_000023.10:g.49455938G>T, NG_012550.1:g.9659C>T, NG_012550.1:g.9659C>A, NM_003785.4:c.206C>T, NM_003785.4:c.206C>A, NM_003785.3:c.206C>T, NM_003785.3:c.206C>A, NW_004070880.2:g.1880764G>A, NW_004070880.2:g.1880764G>T, XM_011543998.3:c.206C>T, XM_011543998.3:c.206C>A, XM_011543998.2:c.206C>T, XM_011543998.2:c.206C>A, XM_011543998.1:c.206C>T, XM_011543998.1:c.206C>A, NP_003776.2:p.Pro69Leu, NP_003776.2:p.Pro69Gln, XP_011542300.1:p.Pro69Leu, XP_011542300.1:p.Pro69Gln

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