SNP Links for Nucleotide (Select 320089596) - SNP

Select item 14869394571.

rs1486939457 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: Y:23229613 (GRCh38)
Y:25375760 (GRCh37)
Canonical SPDI:: NC_000024.10:23229612:C:G
Gene:: DAZ2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000024.10:g.23229613C>G, NC_000024.9:g.25375760C>G, NG_004755.2:g.1418727C>G, NG_028267.1:g.15157C>G, NM_020363.3:c.514C>G, NM_001005785.2:c.514C>G, NM_001005786.2:c.514C>G, NM_001389303.1:c.514C>G, NM_001388493.1:c.514C>G, NM_001388494.1:c.514C>G, NM_001388495.1:c.367C>G, NP_065096.2:p.Pro172Ala, NP_001005785.1:p.Pro172Ala, NP_001005786.2:p.Pro172Ala, NP_001376232.1:p.Pro172Ala, NP_001375422.1:p.Pro172Ala, NP_001375423.1:p.Pro172Ala, NP_001375424.1:p.Pro123Ala

Select item 14289147052.

rs1428914705 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:23229644 (GRCh38)
Y:25375791 (GRCh37)
Canonical SPDI:: NC_000024.10:23229643:G:A
Gene:: DAZ2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00004/1 (GnomAD)
HGVS:: NC_000024.10:g.23229644G>A, NC_000024.9:g.25375791G>A, NG_004755.2:g.1418758G>A, NG_028267.1:g.15188G>A, NM_020363.3:c.545G>A, NM_001005785.2:c.545G>A, NM_001005786.2:c.545G>A, NM_001389303.1:c.545G>A, NM_001388493.1:c.545G>A, NM_001388494.1:c.545G>A, NM_001388495.1:c.398G>A, NP_065096.2:p.Cys182Tyr, NP_001005785.1:p.Cys182Tyr, NP_001005786.2:p.Cys182Tyr, NP_001376232.1:p.Cys182Tyr, NP_001375422.1:p.Cys182Tyr, NP_001375423.1:p.Cys182Tyr, NP_001375424.1:p.Cys133Tyr

Select item 13883182903.

rs1388318290 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:23229653 (GRCh38)
Y:25375800 (GRCh37)
Canonical SPDI:: NC_000024.10:23229652:T:C
Gene:: DAZ2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000024.10:g.23229653T>C, NC_000024.9:g.25375800T>C, NG_004755.2:g.1418767T>C, NG_028267.1:g.15197T>C, NM_020363.3:c.554T>C, NM_001005785.2:c.554T>C, NM_001005786.2:c.554T>C, NM_001389303.1:c.554T>C, NM_001388493.1:c.554T>C, NM_001388494.1:c.554T>C, NM_001388495.1:c.407T>C, NP_065096.2:p.Leu185Pro, NP_001005785.1:p.Leu185Pro, NP_001005786.2:p.Leu185Pro, NP_001376232.1:p.Leu185Pro, NP_001375422.1:p.Leu185Pro, NP_001375423.1:p.Leu185Pro, NP_001375424.1:p.Leu136Pro

Select item 13084780364.

rs1308478036 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: Y:23229607 (GRCh38)
Y:25375754 (GRCh37)
Canonical SPDI:: NC_000024.10:23229606:G:C
Gene:: DAZ2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000024.10:g.23229607G>C, NC_000024.9:g.25375754G>C, NG_004755.2:g.1418721G>C, NG_028267.1:g.15151G>C, NM_020363.3:c.508G>C, NM_001005785.2:c.508G>C, NM_001005786.2:c.508G>C, NM_001389303.1:c.508G>C, NM_001388493.1:c.508G>C, NM_001388494.1:c.508G>C, NM_001388495.1:c.361G>C, NP_065096.2:p.Ala170Pro, NP_001005785.1:p.Ala170Pro, NP_001005786.2:p.Ala170Pro, NP_001376232.1:p.Ala170Pro, NP_001375422.1:p.Ala170Pro, NP_001375423.1:p.Ala170Pro, NP_001375424.1:p.Ala121Pro

Select item 12982406475.

rs1298240647 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:23229601 (GRCh38)
Y:25375748 (GRCh37)
Canonical SPDI:: NC_000024.10:23229600:T:C
Gene:: DAZ2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000024.10:g.23229601T>C, NC_000024.9:g.25375748T>C, NG_004755.2:g.1418715T>C, NG_028267.1:g.15145T>C, NM_020363.3:c.502T>C, NM_001005785.2:c.502T>C, NM_001005786.2:c.502T>C, NM_001389303.1:c.502T>C, NM_001388493.1:c.502T>C, NM_001388494.1:c.502T>C, NM_001388495.1:c.355T>C, NP_065096.2:p.Tyr168His, NP_001005785.1:p.Tyr168His, NP_001005786.2:p.Tyr168His, NP_001376232.1:p.Tyr168His, NP_001375422.1:p.Tyr168His, NP_001375423.1:p.Tyr168His, NP_001375424.1:p.Tyr119His

Select item 12575784846.

rs1257578484 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:23229624 (GRCh38)
Y:25375771 (GRCh37)
Canonical SPDI:: NC_000024.10:23229623:A:G
Gene:: DAZ2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000024.10:g.23229624A>G, NC_000024.9:g.25375771A>G, NG_004755.2:g.1418738A>G, NG_028267.1:g.15168A>G, NM_020363.3:c.525A>G, NM_001005785.2:c.525A>G, NM_001005786.2:c.525A>G, NM_001389303.1:c.525A>G, NM_001388493.1:c.525A>G, NM_001388494.1:c.525A>G, NM_001388495.1:c.378A>G

Select item 12124727257.

rs1212472725 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:23229618 (GRCh38)
Y:25375765 (GRCh37)
Canonical SPDI:: NC_000024.10:23229617:T:C
Gene:: DAZ2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000024.10:g.23229618T>C, NC_000024.9:g.25375765T>C, NG_004755.2:g.1418732T>C, NG_028267.1:g.15162T>C, NM_020363.3:c.519T>C, NM_001005785.2:c.519T>C, NM_001005786.2:c.519T>C, NM_001389303.1:c.519T>C, NM_001388493.1:c.519T>C, NM_001388494.1:c.519T>C, NM_001388495.1:c.372T>C

Select item 11797899108.

rs1179789910 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:23229637 (GRCh38)
Y:25375784 (GRCh37)
Canonical SPDI:: NC_000024.10:23229636:A:G
Gene:: DAZ2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000024.10:g.23229637A>G, NC_000024.9:g.25375784A>G, NG_004755.2:g.1418751A>G, NG_028267.1:g.15181A>G, NM_020363.3:c.538A>G, NM_001005785.2:c.538A>G, NM_001005786.2:c.538A>G, NM_001389303.1:c.538A>G, NM_001388493.1:c.538A>G, NM_001388494.1:c.538A>G, NM_001388495.1:c.391A>G, NP_065096.2:p.Thr180Ala, NP_001005785.1:p.Thr180Ala, NP_001005786.2:p.Thr180Ala, NP_001376232.1:p.Thr180Ala, NP_001375422.1:p.Thr180Ala, NP_001375423.1:p.Thr180Ala, NP_001375424.1:p.Thr131Ala

Select item 7785735539.

rs778573553 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: Y:23229662 (GRCh38)
Y:25375809 (GRCh37)
Canonical SPDI:: NC_000024.10:23229661:A:T
Gene:: DAZ2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.0008/1 (ExAC)
HGVS:: NC_000024.10:g.23229662A>T, NC_000024.9:g.25375809A>T, NG_004755.2:g.1418776A>T, NG_028267.1:g.15206A>T, NM_020363.3:c.563A>T, NM_001005785.2:c.563A>T, NM_001005786.2:c.563A>T, NM_001389303.1:c.563A>T, NM_001388493.1:c.563A>T, NM_001388494.1:c.563A>T, NM_001388495.1:c.416A>T, NP_065096.2:p.Asn188Ile, NP_001005785.1:p.Asn188Ile, NP_001005786.2:p.Asn188Ile, NP_001376232.1:p.Asn188Ile, NP_001375422.1:p.Asn188Ile, NP_001375423.1:p.Asn188Ile, NP_001375424.1:p.Asn139Ile

Select item 76646480510.

rs766464805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: Y:23229633 (GRCh38)
Y:25375780 (GRCh37)
Canonical SPDI:: NC_000024.10:23229632:C:A
Gene:: DAZ2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0./0 (ExAC)
HGVS:: NC_000024.10:g.23229633C>A, NC_000024.9:g.25375780C>A, NG_004755.2:g.1418747C>A, NG_028267.1:g.15177C>A, NM_020363.3:c.534C>A, NM_001005785.2:c.534C>A, NM_001005786.2:c.534C>A, NM_001389303.1:c.534C>A, NM_001388493.1:c.534C>A, NM_001388494.1:c.534C>A, NM_001388495.1:c.387C>A

Select item 75864450211.

rs758644502 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: Y:23229617 (GRCh38)
Y:25375764 (GRCh37)
Canonical SPDI:: NC_000024.10:23229616:A:
Gene:: DAZ2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.00004/1 (GnomAD)
-=0.00004/1 (GnomAD_exomes)
-=0.00021/1 (ExAC)
HGVS:: NC_000024.10:g.23229617del, NC_000024.9:g.25375764del, NG_004755.2:g.1418731del, NG_028267.1:g.15161del, NM_020363.3:c.518del, NM_001005785.2:c.518del, NM_001005786.2:c.518del, NM_001389303.1:c.518del, NM_001388493.1:c.518del, NM_001388494.1:c.518del, NM_001388495.1:c.371del, NP_065096.2:p.His173fs, NP_001005785.1:p.His173fs, NP_001005786.2:p.His173fs, NP_001376232.1:p.His173fs, NP_001375422.1:p.His173fs, NP_001375423.1:p.His173fs, NP_001375424.1:p.His124fs

Select item 75492417612.

rs754924176 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:23229652 (GRCh38)
Y:25375799 (GRCh37)
Canonical SPDI:: NC_000024.10:23229651:C:T
Gene:: DAZ2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0./0 (ExAC)
T=0.00007/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.23229652C>T, NC_000024.9:g.25375799C>T, NG_004755.2:g.1418766C>T, NG_028267.1:g.15196C>T, NM_020363.3:c.553C>T, NM_001005785.2:c.553C>T, NM_001005786.2:c.553C>T, NM_001389303.1:c.553C>T, NM_001388493.1:c.553C>T, NM_001388494.1:c.553C>T, NM_001388495.1:c.406C>T, NP_065096.2:p.Leu185Phe, NP_001005785.1:p.Leu185Phe, NP_001005786.2:p.Leu185Phe, NP_001376232.1:p.Leu185Phe, NP_001375422.1:p.Leu185Phe, NP_001375423.1:p.Leu185Phe, NP_001375424.1:p.Leu136Phe

Select item 75384508213.

rs753845082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: Y:23229640 (GRCh38)
Y:25375787 (GRCh37)
Canonical SPDI:: NC_000024.10:23229639:G:T
Gene:: DAZ2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by cluster
MAF:: T=0./0 (ExAC)
HGVS:: NC_000024.10:g.23229640G>T, NC_000024.9:g.25375787G>T, NG_004755.2:g.1418754G>T, NG_028267.1:g.15184G>T, NM_020363.3:c.541G>T, NM_001005785.2:c.541G>T, NM_001005786.2:c.541G>T, NM_001389303.1:c.541G>T, NM_001388493.1:c.541G>T, NM_001388494.1:c.541G>T, NM_001388495.1:c.394G>T, NP_065096.2:p.Gly181Ter, NP_001005785.1:p.Gly181Ter, NP_001005786.2:p.Gly181Ter, NP_001376232.1:p.Gly181Ter, NP_001375422.1:p.Gly181Ter, NP_001375423.1:p.Gly181Ter, NP_001375424.1:p.Gly132Ter

Select item 75247764414.

rs752477644 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: Y:23229667 (GRCh38)
Y:25375814 (GRCh37)
Canonical SPDI:: NC_000024.10:23229666:C:A
Gene:: DAZ2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.0001/1 (GnomAD_exomes)
A=0.0012/1 (ExAC)
HGVS:: NC_000024.10:g.23229667C>A, NC_000024.9:g.25375814C>A, NG_004755.2:g.1418781C>A, NG_028267.1:g.15211C>A, NM_020363.3:c.568C>A, NM_001005785.2:c.568C>A, NM_001005786.2:c.568C>A, NM_001389303.1:c.568C>A, NM_001388493.1:c.568C>A, NM_001388494.1:c.568C>A, NM_001388495.1:c.421C>A, NP_065096.2:p.Gln190Lys, NP_001005785.1:p.Gln190Lys, NP_001005786.2:p.Gln190Lys, NP_001376232.1:p.Gln190Lys, NP_001375422.1:p.Gln190Lys, NP_001375423.1:p.Gln190Lys, NP_001375424.1:p.Gln141Lys

Select item 37315683315.

rs373156833 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: Y:23229612 (GRCh38)
Y:25375759 (GRCh37)
Canonical SPDI:: NC_000024.10:23229611:T:A
Gene:: DAZ2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by cluster
MAF:: A=0./0 (ExAC)
A=0.0004/1 (GoESP)
HGVS:: NC_000024.10:g.23229612T>A, NC_000024.9:g.25375759T>A, NG_004755.2:g.1418726T>A, NG_028267.1:g.15156T>A, NM_020363.3:c.513T>A, NM_001005785.2:c.513T>A, NM_001005786.2:c.513T>A, NM_001389303.1:c.513T>A, NM_001388493.1:c.513T>A, NM_001388494.1:c.513T>A, NM_001388495.1:c.366T>A, NP_065096.2:p.Tyr171Ter, NP_001005785.1:p.Tyr171Ter, NP_001005786.2:p.Tyr171Ter, NP_001376232.1:p.Tyr171Ter, NP_001375422.1:p.Tyr171Ter, NP_001375423.1:p.Tyr171Ter, NP_001375424.1:p.Tyr122Ter

Select item 20045245616.

rs200452456 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: Y:23229611 (GRCh38)
Y:25375758 (GRCh37)
Canonical SPDI:: NC_000024.10:23229610:A:T
Gene:: DAZ2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00047/2 (ALFA)
T=0.00013/4 (GnomAD_exomes)
T=0.00042/2 (ExAC)
T=0.00082/2 (GoESP)
HGVS:: NC_000024.10:g.23229611A>T, NC_000024.9:g.25375758A>T, NG_004755.2:g.1418725A>T, NG_028267.1:g.15155A>T, NM_020363.3:c.512A>T, NM_001005785.2:c.512A>T, NM_001005786.2:c.512A>T, NM_001389303.1:c.512A>T, NM_001388493.1:c.512A>T, NM_001388494.1:c.512A>T, NM_001388495.1:c.365A>T, NP_065096.2:p.Tyr171Phe, NP_001005785.1:p.Tyr171Phe, NP_001005786.2:p.Tyr171Phe, NP_001376232.1:p.Tyr171Phe, NP_001375422.1:p.Tyr171Phe, NP_001375423.1:p.Tyr171Phe, NP_001375424.1:p.Tyr122Phe

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