SNP Links for Protein (Select 98961138) - SNP

Select item 14889007971.

rs1488900797 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:126475258 (GRCh38)
3:126194101 (GRCh37)
Canonical SPDI:: NC_000003.12:126475257:T:C
Gene:: ZXDC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.126475258T>C, NC_000003.11:g.126194101T>C, NM_025112.5:c.608A>G, NM_025112.4:c.608A>G, NM_001040653.4:c.608A>G, NM_001040653.3:c.608A>G, NM_001040653.2:c.608A>G, XM_005247757.4:c.608A>G, XM_005247757.3:c.608A>G, XM_005247757.2:c.608A>G, XM_005247757.1:c.608A>G, XM_011513119.3:c.608A>G, XM_011513119.2:c.608A>G, XM_011513119.1:c.608A>G, XM_006713741.3:c.608A>G, XM_006713741.2:c.608A>G, XM_006713741.1:c.608A>G, NR_104249.2:n.634A>G, NR_104249.1:n.662A>G, XM_047448901.1:c.608A>G, NP_079388.3:p.Gln203Arg, NP_001035743.1:p.Gln203Arg, XP_005247814.1:p.Gln203Arg, XP_011511421.1:p.Gln203Arg, XP_006713804.1:p.Gln203Arg, XP_047304857.1:p.Gln203Arg

Select item 14871036232.

rs1487103623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:126475311 (GRCh38)
3:126194154 (GRCh37)
Canonical SPDI:: NC_000003.12:126475310:G:A
Gene:: ZXDC (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.126475311G>A, NC_000003.11:g.126194154G>A, NM_025112.5:c.555C>T, NM_025112.4:c.555C>T, NM_001040653.4:c.555C>T, NM_001040653.3:c.555C>T, NM_001040653.2:c.555C>T, XM_005247757.4:c.555C>T, XM_005247757.3:c.555C>T, XM_005247757.2:c.555C>T, XM_005247757.1:c.555C>T, XM_011513119.3:c.555C>T, XM_011513119.2:c.555C>T, XM_011513119.1:c.555C>T, XM_006713741.3:c.555C>T, XM_006713741.2:c.555C>T, XM_006713741.1:c.555C>T, NR_104249.2:n.581C>T, NR_104249.1:n.609C>T, XM_047448901.1:c.555C>T

Select item 14851324483.

rs1485132448 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:126462093 (GRCh38)
3:126180936 (GRCh37)
Canonical SPDI:: NC_000003.12:126462092:A:G
Gene:: ZXDC (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000003.12:g.126462093A>G, NC_000003.11:g.126180936A>G, NM_025112.5:c.1569T>C, NM_025112.4:c.1569T>C, NM_001040653.4:c.1569T>C, NM_001040653.3:c.1569T>C, NM_001040653.2:c.1569T>C, XM_005247757.4:c.1569T>C, XM_005247757.3:c.1569T>C, XM_005247757.2:c.1569T>C, XM_005247757.1:c.1569T>C, XM_011513119.3:c.1398T>C, XM_011513119.2:c.1398T>C, XM_011513119.1:c.1398T>C, XM_006713741.3:c.1569T>C, XM_006713741.2:c.1569T>C, XM_006713741.1:c.1569T>C, NR_104249.2:n.1595T>C, NR_104249.1:n.1623T>C, XM_047448901.1:c.1569T>C

Select item 14850036484.

rs1485003648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:126475494 (GRCh38)
3:126194337 (GRCh37)
Canonical SPDI:: NC_000003.12:126475493:G:A,NC_000003.12:126475493:G:T
Gene:: ZXDC (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.126475494G>A, NC_000003.12:g.126475494G>T, NC_000003.11:g.126194337G>A, NC_000003.11:g.126194337G>T, NM_025112.5:c.372C>T, NM_025112.5:c.372C>A, NM_025112.4:c.372C>T, NM_025112.4:c.372C>A, NM_001040653.4:c.372C>T, NM_001040653.4:c.372C>A, NM_001040653.3:c.372C>T, NM_001040653.3:c.372C>A, NM_001040653.2:c.372C>T, NM_001040653.2:c.372C>A, XM_005247757.4:c.372C>T, XM_005247757.4:c.372C>A, XM_005247757.3:c.372C>T, XM_005247757.3:c.372C>A, XM_005247757.2:c.372C>T, XM_005247757.2:c.372C>A, XM_005247757.1:c.372C>T, XM_005247757.1:c.372C>A, XM_011513119.3:c.372C>T, XM_011513119.3:c.372C>A, XM_011513119.2:c.372C>T, XM_011513119.2:c.372C>A, XM_011513119.1:c.372C>T, XM_011513119.1:c.372C>A, XM_006713741.3:c.372C>T, XM_006713741.3:c.372C>A, XM_006713741.2:c.372C>T, XM_006713741.2:c.372C>A, XM_006713741.1:c.372C>T, XM_006713741.1:c.372C>A, NR_104249.2:n.398C>T, NR_104249.2:n.398C>A, NR_104249.1:n.426C>T, NR_104249.1:n.426C>A, XM_047448901.1:c.372C>T, XM_047448901.1:c.372C>A

Select item 14848781915.

rs1484878191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:126470972 (GRCh38)
3:126189815 (GRCh37)
Canonical SPDI:: NC_000003.12:126470971:G:C
Gene:: ZXDC (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.126470972G>C, NC_000003.11:g.126189815G>C, NM_025112.5:c.1193C>G, NM_025112.4:c.1193C>G, NM_001040653.4:c.1193C>G, NM_001040653.3:c.1193C>G, NM_001040653.2:c.1193C>G, XM_005247757.4:c.1193C>G, XM_005247757.3:c.1193C>G, XM_005247757.2:c.1193C>G, XM_005247757.1:c.1193C>G, XM_011513119.3:c.1193C>G, XM_011513119.2:c.1193C>G, XM_011513119.1:c.1193C>G, XM_006713741.3:c.1193C>G, XM_006713741.2:c.1193C>G, XM_006713741.1:c.1193C>G, NR_104249.2:n.1219C>G, NR_104249.1:n.1247C>G, XM_047448901.1:c.1193C>G, NP_079388.3:p.Ser398Ter, NP_001035743.1:p.Ser398Ter, XP_005247814.1:p.Ser398Ter, XP_011511421.1:p.Ser398Ter, XP_006713804.1:p.Ser398Ter, XP_047304857.1:p.Ser398Ter

Select item 14848266716.

rs1484826671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:126475193 (GRCh38)
3:126194036 (GRCh37)
Canonical SPDI:: NC_000003.12:126475192:G:A,NC_000003.12:126475192:G:T
Gene:: ZXDC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.126475193G>A, NC_000003.12:g.126475193G>T, NC_000003.11:g.126194036G>A, NC_000003.11:g.126194036G>T, NM_025112.5:c.673C>T, NM_025112.5:c.673C>A, NM_025112.4:c.673C>T, NM_025112.4:c.673C>A, NM_001040653.4:c.673C>T, NM_001040653.4:c.673C>A, NM_001040653.3:c.673C>T, NM_001040653.3:c.673C>A, NM_001040653.2:c.673C>T, NM_001040653.2:c.673C>A, XM_005247757.4:c.673C>T, XM_005247757.4:c.673C>A, XM_005247757.3:c.673C>T, XM_005247757.3:c.673C>A, XM_005247757.2:c.673C>T, XM_005247757.2:c.673C>A, XM_005247757.1:c.673C>T, XM_005247757.1:c.673C>A, XM_011513119.3:c.673C>T, XM_011513119.3:c.673C>A, XM_011513119.2:c.673C>T, XM_011513119.2:c.673C>A, XM_011513119.1:c.673C>T, XM_011513119.1:c.673C>A, XM_006713741.3:c.673C>T, XM_006713741.3:c.673C>A, XM_006713741.2:c.673C>T, XM_006713741.2:c.673C>A, XM_006713741.1:c.673C>T, XM_006713741.1:c.673C>A, NR_104249.2:n.699C>T, NR_104249.2:n.699C>A, NR_104249.1:n.727C>T, NR_104249.1:n.727C>A, XM_047448901.1:c.673C>T, XM_047448901.1:c.673C>A, NP_079388.3:p.Leu225Phe, NP_079388.3:p.Leu225Ile, NP_001035743.1:p.Leu225Phe, NP_001035743.1:p.Leu225Ile, XP_005247814.1:p.Leu225Phe, XP_005247814.1:p.Leu225Ile, XP_011511421.1:p.Leu225Phe, XP_011511421.1:p.Leu225Ile, XP_006713804.1:p.Leu225Phe, XP_006713804.1:p.Leu225Ile, XP_047304857.1:p.Leu225Phe, XP_047304857.1:p.Leu225Ile

Select item 14840800917.

rs1484080091 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:126475347 (GRCh38)
3:126194190 (GRCh37)
Canonical SPDI:: NC_000003.12:126475346:G:A,NC_000003.12:126475346:G:C
Gene:: ZXDC (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000003.12:g.126475347G>A, NC_000003.12:g.126475347G>C, NC_000003.11:g.126194190G>A, NC_000003.11:g.126194190G>C, NM_025112.5:c.519C>T, NM_025112.5:c.519C>G, NM_025112.4:c.519C>T, NM_025112.4:c.519C>G, NM_001040653.4:c.519C>T, NM_001040653.4:c.519C>G, NM_001040653.3:c.519C>T, NM_001040653.3:c.519C>G, NM_001040653.2:c.519C>T, NM_001040653.2:c.519C>G, XM_005247757.4:c.519C>T, XM_005247757.4:c.519C>G, XM_005247757.3:c.519C>T, XM_005247757.3:c.519C>G, XM_005247757.2:c.519C>T, XM_005247757.2:c.519C>G, XM_005247757.1:c.519C>T, XM_005247757.1:c.519C>G, XM_011513119.3:c.519C>T, XM_011513119.3:c.519C>G, XM_011513119.2:c.519C>T, XM_011513119.2:c.519C>G, XM_011513119.1:c.519C>T, XM_011513119.1:c.519C>G, XM_006713741.3:c.519C>T, XM_006713741.3:c.519C>G, XM_006713741.2:c.519C>T, XM_006713741.2:c.519C>G, XM_006713741.1:c.519C>T, XM_006713741.1:c.519C>G, NR_104249.2:n.545C>T, NR_104249.2:n.545C>G, NR_104249.1:n.573C>T, NR_104249.1:n.573C>G, XM_047448901.1:c.519C>T, XM_047448901.1:c.519C>G

Select item 14833714448.

rs1483371444 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:126475691 (GRCh38)
3:126194534 (GRCh37)
Canonical SPDI:: NC_000003.12:126475690:A:T
Gene:: ZXDC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.126475691A>T, NC_000003.11:g.126194534A>T, NM_025112.5:c.175T>A, NM_025112.4:c.175T>A, NM_001040653.4:c.175T>A, NM_001040653.3:c.175T>A, NM_001040653.2:c.175T>A, XM_005247757.4:c.175T>A, XM_005247757.3:c.175T>A, XM_005247757.2:c.175T>A, XM_005247757.1:c.175T>A, XM_011513119.3:c.175T>A, XM_011513119.2:c.175T>A, XM_011513119.1:c.175T>A, XM_006713741.3:c.175T>A, XM_006713741.2:c.175T>A, XM_006713741.1:c.175T>A, NR_104249.2:n.201T>A, NR_104249.1:n.229T>A, XM_047448901.1:c.175T>A, NP_079388.3:p.Ser59Thr, NP_001035743.1:p.Ser59Thr, XP_005247814.1:p.Ser59Thr, XP_011511421.1:p.Ser59Thr, XP_006713804.1:p.Ser59Thr, XP_047304857.1:p.Ser59Thr

Select item 14831138279.

rs1483113827 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:126461876 (GRCh38)
3:126180719 (GRCh37)
Canonical SPDI:: NC_000003.12:126461875:A:G
Gene:: ZXDC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.126461876A>G, NC_000003.11:g.126180719A>G, NM_025112.5:c.1786T>C, NM_025112.4:c.1786T>C, NM_001040653.4:c.1786T>C, NM_001040653.3:c.1786T>C, NM_001040653.2:c.1786T>C, XM_005247757.4:c.1786T>C, XM_005247757.3:c.1786T>C, XM_005247757.2:c.1786T>C, XM_005247757.1:c.1786T>C, XM_011513119.3:c.1615T>C, XM_011513119.2:c.1615T>C, XM_011513119.1:c.1615T>C, XM_006713741.3:c.1786T>C, XM_006713741.2:c.1786T>C, XM_006713741.1:c.1786T>C, NR_104249.2:n.1812T>C, NR_104249.1:n.1840T>C, XM_047448901.1:c.1786T>C, NP_079388.3:p.Phe596Leu, NP_001035743.1:p.Phe596Leu, XP_005247814.1:p.Phe596Leu, XP_011511421.1:p.Phe539Leu, XP_006713804.1:p.Phe596Leu, XP_047304857.1:p.Phe596Leu

Select item 148134918010.

rs1481349180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:126475096 (GRCh38)
3:126193939 (GRCh37)
Canonical SPDI:: NC_000003.12:126475095:G:A
Gene:: ZXDC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000003.12:g.126475096G>A, NC_000003.11:g.126193939G>A, NM_025112.5:c.770C>T, NM_025112.4:c.770C>T, NM_001040653.4:c.770C>T, NM_001040653.3:c.770C>T, NM_001040653.2:c.770C>T, XM_005247757.4:c.770C>T, XM_005247757.3:c.770C>T, XM_005247757.2:c.770C>T, XM_005247757.1:c.770C>T, XM_011513119.3:c.770C>T, XM_011513119.2:c.770C>T, XM_011513119.1:c.770C>T, XM_006713741.3:c.770C>T, XM_006713741.2:c.770C>T, XM_006713741.1:c.770C>T, NR_104249.2:n.796C>T, NR_104249.1:n.824C>T, XM_047448901.1:c.770C>T, NP_079388.3:p.Ala257Val, NP_001035743.1:p.Ala257Val, XP_005247814.1:p.Ala257Val, XP_011511421.1:p.Ala257Val, XP_006713804.1:p.Ala257Val, XP_047304857.1:p.Ala257Val

Select item 147864093611.

rs1478640936 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:126461741 (GRCh38)
3:126180584 (GRCh37)
Canonical SPDI:: NC_000003.12:126461740:T:C
Gene:: ZXDC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.126461741T>C, NC_000003.11:g.126180584T>C, NM_025112.5:c.1921A>G, NM_025112.4:c.1921A>G, NM_001040653.4:c.1921A>G, NM_001040653.3:c.1921A>G, NM_001040653.2:c.1921A>G, XM_005247757.4:c.1921A>G, XM_005247757.3:c.1921A>G, XM_005247757.2:c.1921A>G, XM_005247757.1:c.1921A>G, XM_011513119.3:c.1750A>G, XM_011513119.2:c.1750A>G, XM_011513119.1:c.1750A>G, XM_006713741.3:c.1921A>G, XM_006713741.2:c.1921A>G, XM_006713741.1:c.1921A>G, NR_104249.2:n.1947A>G, NR_104249.1:n.1975A>G, XM_047448901.1:c.1921A>G, NP_079388.3:p.Thr641Ala, NP_001035743.1:p.Thr641Ala, XP_005247814.1:p.Thr641Ala, XP_011511421.1:p.Thr584Ala, XP_006713804.1:p.Thr641Ala, XP_047304857.1:p.Thr641Ala

Select item 147801337512.

rs1478013375 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:126475520 (GRCh38)
3:126194363 (GRCh37)
Canonical SPDI:: NC_000003.12:126475519:C:A,NC_000003.12:126475519:C:T
Gene:: ZXDC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.126475520C>A, NC_000003.12:g.126475520C>T, NC_000003.11:g.126194363C>A, NC_000003.11:g.126194363C>T, NM_025112.5:c.346G>T, NM_025112.5:c.346G>A, NM_025112.4:c.346G>T, NM_025112.4:c.346G>A, NM_001040653.4:c.346G>T, NM_001040653.4:c.346G>A, NM_001040653.3:c.346G>T, NM_001040653.3:c.346G>A, NM_001040653.2:c.346G>T, NM_001040653.2:c.346G>A, XM_005247757.4:c.346G>T, XM_005247757.4:c.346G>A, XM_005247757.3:c.346G>T, XM_005247757.3:c.346G>A, XM_005247757.2:c.346G>T, XM_005247757.2:c.346G>A, XM_005247757.1:c.346G>T, XM_005247757.1:c.346G>A, XM_011513119.3:c.346G>T, XM_011513119.3:c.346G>A, XM_011513119.2:c.346G>T, XM_011513119.2:c.346G>A, XM_011513119.1:c.346G>T, XM_011513119.1:c.346G>A, XM_006713741.3:c.346G>T, XM_006713741.3:c.346G>A, XM_006713741.2:c.346G>T, XM_006713741.2:c.346G>A, XM_006713741.1:c.346G>T, XM_006713741.1:c.346G>A, NR_104249.2:n.372G>T, NR_104249.2:n.372G>A, NR_104249.1:n.400G>T, NR_104249.1:n.400G>A, XM_047448901.1:c.346G>T, XM_047448901.1:c.346G>A, NP_079388.3:p.Ala116Ser, NP_079388.3:p.Ala116Thr, NP_001035743.1:p.Ala116Ser, NP_001035743.1:p.Ala116Thr, XP_005247814.1:p.Ala116Ser, XP_005247814.1:p.Ala116Thr, XP_011511421.1:p.Ala116Ser, XP_011511421.1:p.Ala116Thr, XP_006713804.1:p.Ala116Ser, XP_006713804.1:p.Ala116Thr, XP_047304857.1:p.Ala116Ser, XP_047304857.1:p.Ala116Thr

Select item 147757994913.

rs1477579949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:126461584 (GRCh38)
3:126180427 (GRCh37)
Canonical SPDI:: NC_000003.12:126461583:T:A
Gene:: ZXDC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.126461584T>A, NC_000003.11:g.126180427T>A, NM_025112.5:c.2078A>T, NM_025112.4:c.2078A>T, NM_001040653.4:c.2078A>T, NM_001040653.3:c.2078A>T, NM_001040653.2:c.2078A>T, XM_005247757.4:c.2078A>T, XM_005247757.3:c.2078A>T, XM_005247757.2:c.2078A>T, XM_005247757.1:c.2078A>T, XM_011513119.3:c.1907A>T, XM_011513119.2:c.1907A>T, XM_011513119.1:c.1907A>T, XM_006713741.3:c.2078A>T, XM_006713741.2:c.2078A>T, XM_006713741.1:c.2078A>T, NR_104249.2:n.2104A>T, NR_104249.1:n.2132A>T, XM_047448901.1:c.2078A>T, NP_079388.3:p.His693Leu, NP_001035743.1:p.His693Leu, XP_005247814.1:p.His693Leu, XP_011511421.1:p.His636Leu, XP_006713804.1:p.His693Leu, XP_047304857.1:p.His693Leu

Select item 147676954514.

rs1476769545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:126475713 (GRCh38)
3:126194556 (GRCh37)
Canonical SPDI:: NC_000003.12:126475712:G:T
Gene:: ZXDC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.126475713G>T, NC_000003.11:g.126194556G>T, NM_025112.5:c.153C>A, NM_025112.4:c.153C>A, NM_001040653.4:c.153C>A, NM_001040653.3:c.153C>A, NM_001040653.2:c.153C>A, XM_005247757.4:c.153C>A, XM_005247757.3:c.153C>A, XM_005247757.2:c.153C>A, XM_005247757.1:c.153C>A, XM_011513119.3:c.153C>A, XM_011513119.2:c.153C>A, XM_011513119.1:c.153C>A, XM_006713741.3:c.153C>A, XM_006713741.2:c.153C>A, XM_006713741.1:c.153C>A, NR_104249.2:n.179C>A, NR_104249.1:n.207C>A, XM_047448901.1:c.153C>A

Select item 147611895015.

rs1476118950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:126475079 (GRCh38)
3:126193922 (GRCh37)
Canonical SPDI:: NC_000003.12:126475078:C:T
Gene:: ZXDC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000003.12:g.126475079C>T, NC_000003.11:g.126193922C>T, NM_025112.5:c.787G>A, NM_025112.4:c.787G>A, NM_001040653.4:c.787G>A, NM_001040653.3:c.787G>A, NM_001040653.2:c.787G>A, XM_005247757.4:c.787G>A, XM_005247757.3:c.787G>A, XM_005247757.2:c.787G>A, XM_005247757.1:c.787G>A, XM_011513119.3:c.787G>A, XM_011513119.2:c.787G>A, XM_011513119.1:c.787G>A, XM_006713741.3:c.787G>A, XM_006713741.2:c.787G>A, XM_006713741.1:c.787G>A, NR_104249.2:n.813G>A, NR_104249.1:n.841G>A, XM_047448901.1:c.787G>A, NP_079388.3:p.Glu263Lys, NP_001035743.1:p.Glu263Lys, XP_005247814.1:p.Glu263Lys, XP_011511421.1:p.Glu263Lys, XP_006713804.1:p.Glu263Lys, XP_047304857.1:p.Glu263Lys

Select item 147595746216.

rs1475957462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:126475266 (GRCh38)
3:126194109 (GRCh37)
Canonical SPDI:: NC_000003.12:126475265:G:A
Gene:: ZXDC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.126475266G>A, NC_000003.11:g.126194109G>A, NM_025112.5:c.600C>T, NM_025112.4:c.600C>T, NM_001040653.4:c.600C>T, NM_001040653.3:c.600C>T, NM_001040653.2:c.600C>T, XM_005247757.4:c.600C>T, XM_005247757.3:c.600C>T, XM_005247757.2:c.600C>T, XM_005247757.1:c.600C>T, XM_011513119.3:c.600C>T, XM_011513119.2:c.600C>T, XM_011513119.1:c.600C>T, XM_006713741.3:c.600C>T, XM_006713741.2:c.600C>T, XM_006713741.1:c.600C>T, NR_104249.2:n.626C>T, NR_104249.1:n.654C>T, XM_047448901.1:c.600C>T

Select item 147529637517.

rs1475296375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:126475500 (GRCh38)
3:126194343 (GRCh37)
Canonical SPDI:: NC_000003.12:126475499:G:A,NC_000003.12:126475499:G:T
Gene:: ZXDC (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=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.126475500G>A, NC_000003.12:g.126475500G>T, NC_000003.11:g.126194343G>A, NC_000003.11:g.126194343G>T, NM_025112.5:c.366C>T, NM_025112.5:c.366C>A, NM_025112.4:c.366C>T, NM_025112.4:c.366C>A, NM_001040653.4:c.366C>T, NM_001040653.4:c.366C>A, NM_001040653.3:c.366C>T, NM_001040653.3:c.366C>A, NM_001040653.2:c.366C>T, NM_001040653.2:c.366C>A, XM_005247757.4:c.366C>T, XM_005247757.4:c.366C>A, XM_005247757.3:c.366C>T, XM_005247757.3:c.366C>A, XM_005247757.2:c.366C>T, XM_005247757.2:c.366C>A, XM_005247757.1:c.366C>T, XM_005247757.1:c.366C>A, XM_011513119.3:c.366C>T, XM_011513119.3:c.366C>A, XM_011513119.2:c.366C>T, XM_011513119.2:c.366C>A, XM_011513119.1:c.366C>T, XM_011513119.1:c.366C>A, XM_006713741.3:c.366C>T, XM_006713741.3:c.366C>A, XM_006713741.2:c.366C>T, XM_006713741.2:c.366C>A, XM_006713741.1:c.366C>T, XM_006713741.1:c.366C>A, NR_104249.2:n.392C>T, NR_104249.2:n.392C>A, NR_104249.1:n.420C>T, NR_104249.1:n.420C>A, XM_047448901.1:c.366C>T, XM_047448901.1:c.366C>A

Select item 147504897618.

rs1475048976 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:126475434 (GRCh38)
3:126194277 (GRCh37)
Canonical SPDI:: NC_000003.12:126475433:G:C
Gene:: ZXDC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0004/2 (ALFA)
C=0.0004/2 (Estonian)
HGVS:: NC_000003.12:g.126475434G>C, NC_000003.11:g.126194277G>C, NM_025112.5:c.432C>G, NM_025112.4:c.432C>G, NM_001040653.4:c.432C>G, NM_001040653.3:c.432C>G, NM_001040653.2:c.432C>G, XM_005247757.4:c.432C>G, XM_005247757.3:c.432C>G, XM_005247757.2:c.432C>G, XM_005247757.1:c.432C>G, XM_011513119.3:c.432C>G, XM_011513119.2:c.432C>G, XM_011513119.1:c.432C>G, XM_006713741.3:c.432C>G, XM_006713741.2:c.432C>G, XM_006713741.1:c.432C>G, NR_104249.2:n.458C>G, NR_104249.1:n.486C>G, XM_047448901.1:c.432C>G

Select item 147449164519.

rs1474491645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:126475354 (GRCh38)
3:126194197 (GRCh37)
Canonical SPDI:: NC_000003.12:126475353:C:A,NC_000003.12:126475353:C:G
Gene:: ZXDC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.126475354C>A, NC_000003.12:g.126475354C>G, NC_000003.11:g.126194197C>A, NC_000003.11:g.126194197C>G, NM_025112.5:c.512G>T, NM_025112.5:c.512G>C, NM_025112.4:c.512G>T, NM_025112.4:c.512G>C, NM_001040653.4:c.512G>T, NM_001040653.4:c.512G>C, NM_001040653.3:c.512G>T, NM_001040653.3:c.512G>C, NM_001040653.2:c.512G>T, NM_001040653.2:c.512G>C, XM_005247757.4:c.512G>T, XM_005247757.4:c.512G>C, XM_005247757.3:c.512G>T, XM_005247757.3:c.512G>C, XM_005247757.2:c.512G>T, XM_005247757.2:c.512G>C, XM_005247757.1:c.512G>T, XM_005247757.1:c.512G>C, XM_011513119.3:c.512G>T, XM_011513119.3:c.512G>C, XM_011513119.2:c.512G>T, XM_011513119.2:c.512G>C, XM_011513119.1:c.512G>T, XM_011513119.1:c.512G>C, XM_006713741.3:c.512G>T, XM_006713741.3:c.512G>C, XM_006713741.2:c.512G>T, XM_006713741.2:c.512G>C, XM_006713741.1:c.512G>T, XM_006713741.1:c.512G>C, NR_104249.2:n.538G>T, NR_104249.2:n.538G>C, NR_104249.1:n.566G>T, NR_104249.1:n.566G>C, XM_047448901.1:c.512G>T, XM_047448901.1:c.512G>C, NP_079388.3:p.Ser171Ile, NP_079388.3:p.Ser171Thr, NP_001035743.1:p.Ser171Ile, NP_001035743.1:p.Ser171Thr, XP_005247814.1:p.Ser171Ile, XP_005247814.1:p.Ser171Thr, XP_011511421.1:p.Ser171Ile, XP_011511421.1:p.Ser171Thr, XP_006713804.1:p.Ser171Ile, XP_006713804.1:p.Ser171Thr, XP_047304857.1:p.Ser171Ile, XP_047304857.1:p.Ser171Thr

Select item 147290421120.

rs1472904211 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:126474975 (GRCh38)
3:126193818 (GRCh37)
Canonical SPDI:: NC_000003.12:126474974:G:A
Gene:: ZXDC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000003.12:g.126474975G>A, NC_000003.11:g.126193818G>A, NM_025112.5:c.891C>T, NM_025112.4:c.891C>T, NM_001040653.4:c.891C>T, NM_001040653.3:c.891C>T, NM_001040653.2:c.891C>T, XM_005247757.4:c.891C>T, XM_005247757.3:c.891C>T, XM_005247757.2:c.891C>T, XM_005247757.1:c.891C>T, XM_011513119.3:c.891C>T, XM_011513119.2:c.891C>T, XM_011513119.1:c.891C>T, XM_006713741.3:c.891C>T, XM_006713741.2:c.891C>T, XM_006713741.1:c.891C>T, NR_104249.2:n.917C>T, NR_104249.1:n.945C>T, XM_047448901.1:c.891C>T

dbSNP

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dbSNP

Result Filters

Validation Status

Publication

Function Class

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Annotation

Global MAF

Custom range

Additional filters

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Items: 1 to 20 of 773

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