SNP Links for Nucleotide (Select 1023301071) - SNP

Select item 14868049731.

rs1486804973 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:12917458 (GRCh38)
Y:15029370 (GRCh37)
Canonical SPDI:: NC_000024.10:12917457:A:G
Gene:: DDX3Y (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.12917458A>G, NC_000024.9:g.15029370A>G, NG_012831.1:g.18352A>G, NM_004660.5:c.1819A>G, NM_004660.4:c.1819A>G, NM_004660.3:c.1819A>G, NM_001122665.3:c.1819A>G, NM_001122665.2:c.1819A>G, NM_001122665.1:c.1819A>G, NM_001302552.3:c.1810A>G, NM_001302552.2:c.1810A>G, NM_001302552.1:c.1810A>G, NR_136718.2:n.2286A>G, NR_136718.1:n.2368A>G, NR_136716.2:n.2206A>G, NR_136716.1:n.2288A>G, NR_136720.2:n.2137A>G, NR_136720.1:n.2219A>G, NR_136719.2:n.2076A>G, NR_136719.1:n.2158A>G, NR_136717.2:n.1968A>G, NR_136717.1:n.2050A>G, NR_136721.2:n.1871A>G, NR_136721.1:n.1881A>G, NM_001324195.2:c.1750A>G, NM_001324195.1:c.1750A>G, NR_136723.1:n.2283A>G, NR_136724.1:n.2203A>G, NR_136722.1:n.1965A>G, XM_047442775.1:c.1819A>G, XM_047442776.1:c.1741A>G, XM_047442778.1:c.1267A>G, NP_004651.2:p.Ser607Gly, NP_001116137.1:p.Ser607Gly, NP_001289481.1:p.Ser604Gly, NP_001311124.1:p.Ser584Gly, XP_047298731.1:p.Ser607Gly, XP_047298732.1:p.Ser581Gly, XP_047298734.1:p.Ser423Gly

Select item 14849864762.

rs1484986476 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:12914991 (GRCh38)
Y:15026903 (GRCh37)
Canonical SPDI:: NC_000024.10:12914990:T:C
Gene:: DDX3Y (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.12914991T>C, NC_000024.9:g.15026903T>C, NG_012831.1:g.15885T>C, NR_136718.2:n.1250T>C, NR_136718.1:n.1332T>C, NR_136716.2:n.1170T>C, NR_136716.1:n.1252T>C, NR_136720.2:n.1170T>C, NR_136720.1:n.1252T>C, NR_136719.2:n.1040T>C, NR_136719.1:n.1122T>C, NR_136723.1:n.1247T>C, NR_136724.1:n.1167T>C

Select item 14810642023.

rs1481064202 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: Y:12913050 (GRCh38)
Y:15024962 (GRCh37)
Canonical SPDI:: NC_000024.10:12913049:A:G,NC_000024.10:12913049:A:T
Gene:: DDX3Y (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,synonymous_variant
HGVS:: NC_000024.10:g.12913050A>G, NC_000024.10:g.12913050A>T, NC_000024.9:g.15024962A>G, NC_000024.9:g.15024962A>T, NG_012831.1:g.13944A>G, NG_012831.1:g.13944A>T, NM_004660.5:c.525A>G, NM_004660.5:c.525A>T, NM_004660.4:c.525A>G, NM_004660.4:c.525A>T, NM_004660.3:c.525A>G, NM_004660.3:c.525A>T, NM_001122665.3:c.525A>G, NM_001122665.3:c.525A>T, NM_001122665.2:c.525A>G, NM_001122665.2:c.525A>T, NM_001122665.1:c.525A>G, NM_001122665.1:c.525A>T, NM_001302552.3:c.516A>G, NM_001302552.3:c.516A>T, NM_001302552.2:c.516A>G, NM_001302552.2:c.516A>T, NM_001302552.1:c.516A>G, NM_001302552.1:c.516A>T, NR_136718.2:n.674A>G, NR_136718.2:n.674A>T, NR_136718.1:n.756A>G, NR_136718.1:n.756A>T, NR_136716.2:n.594A>G, NR_136716.2:n.594A>T, NR_136716.1:n.676A>G, NR_136716.1:n.676A>T, NR_136720.2:n.594A>G, NR_136720.2:n.594A>T, NR_136720.1:n.676A>G, NR_136720.1:n.676A>T, NR_136719.2:n.464A>G, NR_136719.2:n.464A>T, NR_136719.1:n.546A>G, NR_136719.1:n.546A>T, NR_136717.2:n.674A>G, NR_136717.2:n.674A>T, NR_136717.1:n.756A>G, NR_136717.1:n.756A>T, NR_136721.2:n.594A>G, NR_136721.2:n.594A>T, NR_136721.1:n.604A>G, NR_136721.1:n.604A>T, NM_001324195.2:c.525A>G, NM_001324195.2:c.525A>T, NM_001324195.1:c.525A>G, NM_001324195.1:c.525A>T, NR_136723.1:n.671A>G, NR_136723.1:n.671A>T, NR_136724.1:n.591A>G, NR_136724.1:n.591A>T, NR_136722.1:n.671A>G, NR_136722.1:n.671A>T, XM_047442775.1:c.525A>G, XM_047442775.1:c.525A>T, XM_047442776.1:c.516A>G, XM_047442776.1:c.516A>T, XM_047442778.1:c.-28A>G, XM_047442778.1:c.-28A>T, XM_047442777.1:c.525A>G, XM_047442777.1:c.525A>T

Select item 14787433454.

rs1478743345 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:12907563 (GRCh38)
Y:15019474 (GRCh37)
Canonical SPDI:: NC_000024.10:12907562:A:G
Gene:: DDX3Y (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00084/4 (ALFA)
G=0.00007/3 (GnomAD_exomes)
HGVS:: NC_000024.10:g.12907563A>G, NC_000024.9:g.15019474A>G, NG_012831.1:g.8456A>G, NM_004660.5:c.72A>G, NM_004660.4:c.72A>G, NM_004660.3:c.72A>G, NM_001122665.3:c.72A>G, NM_001122665.2:c.72A>G, NM_001122665.1:c.72A>G, NM_001302552.3:c.63A>G, NM_001302552.2:c.63A>G, NM_001302552.1:c.63A>G, NR_136718.2:n.141A>G, NR_136718.1:n.223A>G, NR_136716.2:n.141A>G, NR_136716.1:n.223A>G, NR_136720.2:n.141A>G, NR_136720.1:n.223A>G, NR_136719.2:n.141A>G, NR_136719.1:n.223A>G, NR_136717.2:n.141A>G, NR_136717.1:n.223A>G, NR_136721.2:n.141A>G, NR_136721.1:n.151A>G, NM_001324195.2:c.72A>G, NM_001324195.1:c.72A>G, NR_136723.1:n.138A>G, NR_136724.1:n.138A>G, NR_136722.1:n.138A>G, XM_047442775.1:c.72A>G, XM_047442776.1:c.63A>G, XM_047442777.1:c.72A>G

Select item 14754262675.

rs1475426267 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:12915006 (GRCh38)
Y:15026918 (GRCh37)
Canonical SPDI:: NC_000024.10:12915005:A:G
Gene:: DDX3Y (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00042/2 (ALFA)
G=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.12915006A>G, NC_000024.9:g.15026918A>G, NG_012831.1:g.15900A>G, NR_136718.2:n.1265A>G, NR_136718.1:n.1347A>G, NR_136716.2:n.1185A>G, NR_136716.1:n.1267A>G, NR_136720.2:n.1185A>G, NR_136720.1:n.1267A>G, NR_136719.2:n.1055A>G, NR_136719.1:n.1137A>G, NR_136723.1:n.1262A>G, NR_136724.1:n.1182A>G

Select item 14547474566.

rs1454747456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: Y:12917523 (GRCh38)
Y:15029435 (GRCh37)
Canonical SPDI:: NC_000024.10:12917522:C:A
Gene:: DDX3Y (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.12917523C>A, NC_000024.9:g.15029435C>A, NG_012831.1:g.18417C>A, NM_004660.5:c.1884C>A, NM_004660.4:c.1884C>A, NM_004660.3:c.1884C>A, NM_001122665.3:c.1884C>A, NM_001122665.2:c.1884C>A, NM_001122665.1:c.1884C>A, NM_001302552.3:c.1875C>A, NM_001302552.2:c.1875C>A, NM_001302552.1:c.1875C>A, NR_136718.2:n.2351C>A, NR_136718.1:n.2433C>A, NR_136716.2:n.2271C>A, NR_136716.1:n.2353C>A, NR_136720.2:n.2202C>A, NR_136720.1:n.2284C>A, NR_136719.2:n.2141C>A, NR_136719.1:n.2223C>A, NR_136717.2:n.2033C>A, NR_136717.1:n.2115C>A, NR_136721.2:n.1936C>A, NR_136721.1:n.1946C>A, NM_001324195.2:c.1815C>A, NM_001324195.1:c.1815C>A, NR_136723.1:n.2348C>A, NR_136724.1:n.2268C>A, NR_136722.1:n.2030C>A, XM_047442775.1:c.1884C>A, XM_047442776.1:c.1806C>A, XM_047442778.1:c.1332C>A, NP_004651.2:p.Asn628Lys, NP_001116137.1:p.Asn628Lys, NP_001289481.1:p.Asn625Lys, NP_001311124.1:p.Asn605Lys, XP_047298731.1:p.Asn628Lys, XP_047298732.1:p.Asn602Lys, XP_047298734.1:p.Asn444Lys

Select item 14397503497.

rs1439750349 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: Y:12912765 (GRCh38)
Y:15024677 (GRCh37)
Canonical SPDI:: NC_000024.10:12912764:G:C
Gene:: DDX3Y (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.12912765G>C, NC_000024.9:g.15024677G>C, NG_012831.1:g.13659G>C, NM_004660.5:c.320G>C, NM_004660.4:c.320G>C, NM_004660.3:c.320G>C, NM_001122665.3:c.320G>C, NM_001122665.2:c.320G>C, NM_001122665.1:c.320G>C, NM_001302552.3:c.311G>C, NM_001302552.2:c.311G>C, NM_001302552.1:c.311G>C, NR_136718.2:n.389G>C, NR_136718.1:n.471G>C, NR_136716.2:n.389G>C, NR_136716.1:n.471G>C, NR_136720.2:n.389G>C, NR_136720.1:n.471G>C, NR_136719.2:n.259G>C, NR_136719.1:n.341G>C, NR_136717.2:n.389G>C, NR_136717.1:n.471G>C, NR_136721.2:n.389G>C, NR_136721.1:n.399G>C, NM_001324195.2:c.320G>C, NM_001324195.1:c.320G>C, NR_136723.1:n.386G>C, NR_136724.1:n.386G>C, NR_136722.1:n.386G>C, XM_047442775.1:c.320G>C, XM_047442776.1:c.311G>C, XM_047442778.1:c.-233G>C, XM_047442777.1:c.320G>C, NP_004651.2:p.Gly107Ala, NP_001116137.1:p.Gly107Ala, NP_001289481.1:p.Gly104Ala, NP_001311124.1:p.Gly107Ala, XP_047298731.1:p.Gly107Ala, XP_047298732.1:p.Gly104Ala, XP_047298733.1:p.Gly107Ala

Select item 14223941218.

rs1422394121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:12918487 (GRCh38)
Y:15030399 (GRCh37)
Canonical SPDI:: NC_000024.10:12918486:C:T
Gene:: DDX3Y (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
HGVS:: NC_000024.10:g.12918487C>T, NC_000024.9:g.15030399C>T, NG_012831.1:g.19381C>T, NM_004660.5:c.*365C>T, NM_004660.4:c.*365C>T, NM_004660.3:c.*365C>T, NM_001122665.3:c.*365C>T, NM_001122665.2:c.*365C>T, NM_001122665.1:c.*365C>T, NM_001302552.3:c.*365C>T, NM_001302552.2:c.*365C>T, NM_001302552.1:c.*365C>T, NR_136718.2:n.2815C>T, NR_136718.1:n.2897C>T, NR_136716.2:n.2735C>T, NR_136716.1:n.2817C>T, NR_136720.2:n.2666C>T, NR_136720.1:n.2748C>T, NR_136719.2:n.2605C>T, NR_136719.1:n.2687C>T, NR_136717.2:n.2497C>T, NR_136717.1:n.2579C>T, NR_136721.2:n.2400C>T, NR_136721.1:n.2410C>T, NM_001324195.2:c.*365C>T, NM_001324195.1:c.*365C>T, NR_136723.1:n.2812C>T, NR_136724.1:n.2732C>T, NR_136722.1:n.2494C>T, XM_047442775.1:c.*365C>T, XM_047442776.1:c.*365C>T, XM_047442778.1:c.*365C>T

Select item 14209618449.

rs1420961844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:12914615 (GRCh38)
Y:15026527 (GRCh37)
Canonical SPDI:: NC_000024.10:12914614:C:T
Gene:: DDX3Y (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.12914615C>T, NC_000024.9:g.15026527C>T, NG_012831.1:g.15509C>T, NM_004660.5:c.725C>T, NM_004660.4:c.725C>T, NM_004660.3:c.725C>T, NM_001122665.3:c.725C>T, NM_001122665.2:c.725C>T, NM_001122665.1:c.725C>T, NM_001302552.3:c.716C>T, NM_001302552.2:c.716C>T, NM_001302552.1:c.716C>T, NR_136718.2:n.874C>T, NR_136718.1:n.956C>T, NR_136716.2:n.794C>T, NR_136716.1:n.876C>T, NR_136720.2:n.794C>T, NR_136720.1:n.876C>T, NR_136719.2:n.664C>T, NR_136719.1:n.746C>T, NR_136717.2:n.874C>T, NR_136717.1:n.956C>T, NR_136721.2:n.794C>T, NR_136721.1:n.804C>T, NM_001324195.2:c.725C>T, NM_001324195.1:c.725C>T, NR_136723.1:n.871C>T, NR_136724.1:n.791C>T, NR_136722.1:n.871C>T, XM_047442775.1:c.725C>T, XM_047442776.1:c.716C>T, XM_047442778.1:c.173C>T, XM_047442777.1:c.725C>T, NP_004651.2:p.Thr242Ile, NP_001116137.1:p.Thr242Ile, NP_001289481.1:p.Thr239Ile, NP_001311124.1:p.Thr242Ile, XP_047298731.1:p.Thr242Ile, XP_047298732.1:p.Thr239Ile, XP_047298734.1:p.Thr58Ile, XP_047298733.1:p.Thr242Ile

Select item 141945184510.

rs1419451845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:12918622 (GRCh38)
Y:15030534 (GRCh37)
Canonical SPDI:: NC_000024.10:12918621:G:A
Gene:: DDX3Y (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
HGVS:: NC_000024.10:g.12918622G>A, NC_000024.9:g.15030534G>A, NG_012831.1:g.19516G>A, NM_004660.5:c.*500G>A, NM_004660.4:c.*500G>A, NM_004660.3:c.*500G>A, NM_001122665.3:c.*500G>A, NM_001122665.1:c.*500G>A, NM_001302552.3:c.*500G>A, NM_001302552.2:c.*500G>A, NR_136718.2:n.2950G>A, NR_136718.1:n.3032G>A, NR_136716.2:n.2870G>A, NR_136716.1:n.2952G>A, NR_136720.2:n.2801G>A, NR_136720.1:n.2883G>A, NR_136719.2:n.2740G>A, NR_136719.1:n.2822G>A, NR_136717.2:n.2632G>A, NR_136717.1:n.2714G>A, NR_136721.2:n.2535G>A, NR_136721.1:n.2545G>A, NM_001324195.2:c.*500G>A, NM_001324195.1:c.*500G>A, NR_136723.1:n.2947G>A, NR_136724.1:n.2867G>A, NR_136722.1:n.2629G>A, XM_047442775.1:c.*500G>A, XM_047442776.1:c.*500G>A, XM_047442778.1:c.*500G>A

Select item 141657517311.

rs1416575173 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:12913723 (GRCh38)
Y:15025635 (GRCh37)
Canonical SPDI:: NC_000024.10:12913722:C:T
Gene:: DDX3Y (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.12913723C>T, NC_000024.9:g.15025635C>T, NG_012831.1:g.14617C>T, NM_004660.5:c.543C>T, NM_004660.4:c.543C>T, NM_004660.3:c.543C>T, NM_001122665.3:c.543C>T, NM_001122665.2:c.543C>T, NM_001122665.1:c.543C>T, NM_001302552.3:c.534C>T, NM_001302552.2:c.534C>T, NM_001302552.1:c.534C>T, NR_136718.2:n.692C>T, NR_136718.1:n.774C>T, NR_136716.2:n.612C>T, NR_136716.1:n.694C>T, NR_136720.2:n.612C>T, NR_136720.1:n.694C>T, NR_136719.2:n.482C>T, NR_136719.1:n.564C>T, NR_136717.2:n.692C>T, NR_136717.1:n.774C>T, NR_136721.2:n.612C>T, NR_136721.1:n.622C>T, NM_001324195.2:c.543C>T, NM_001324195.1:c.543C>T, NR_136723.1:n.689C>T, NR_136724.1:n.609C>T, NR_136722.1:n.689C>T, XM_047442775.1:c.543C>T, XM_047442776.1:c.534C>T, XM_047442778.1:c.-10C>T, XM_047442777.1:c.543C>T

Select item 141474859712.

rs1414748597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:12905754 (GRCh38)
Y:15017665 (GRCh37)
Canonical SPDI:: NC_000024.10:12905753:G:A
Gene:: DDX3Y (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.00005/2 (GnomAD_exomes)
HGVS:: NC_000024.10:g.12905754G>A, NC_000024.9:g.15017665G>A, NG_012831.1:g.6647G>A, NM_001302552.3:c.-26G>A, NM_001302552.2:c.-26G>A, NM_001302552.1:c.-26G>A, NR_136723.1:n.50G>A, NR_136724.1:n.50G>A, NR_136722.1:n.50G>A, XM_047442776.1:c.-26G>A

Select item 141185091313.

rs1411850913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:12916344 (GRCh38)
Y:15028256 (GRCh37)
Canonical SPDI:: NC_000024.10:12916343:G:A
Gene:: DDX3Y (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.12916344G>A, NC_000024.9:g.15028256G>A, NG_012831.1:g.17238G>A, NM_004660.5:c.1393G>A, NM_004660.4:c.1393G>A, NM_004660.3:c.1393G>A, NM_001122665.3:c.1393G>A, NM_001122665.2:c.1393G>A, NM_001122665.1:c.1393G>A, NM_001302552.3:c.1384G>A, NM_001302552.2:c.1384G>A, NM_001302552.1:c.1384G>A, NR_136718.2:n.1860G>A, NR_136718.1:n.1942G>A, NR_136716.2:n.1780G>A, NR_136716.1:n.1862G>A, NR_136720.2:n.1780G>A, NR_136720.1:n.1862G>A, NR_136719.2:n.1650G>A, NR_136719.1:n.1732G>A, NR_136717.2:n.1542G>A, NR_136717.1:n.1624G>A, NR_136721.2:n.1445G>A, NR_136721.1:n.1455G>A, NM_001324195.2:c.1393G>A, NM_001324195.1:c.1393G>A, NR_136723.1:n.1857G>A, NR_136724.1:n.1777G>A, NR_136722.1:n.1539G>A, XM_047442775.1:c.1393G>A, XM_047442776.1:c.1384G>A, XM_047442778.1:c.841G>A, XM_047442777.1:c.1393G>A, NP_004651.2:p.Ala465Thr, NP_001116137.1:p.Ala465Thr, NP_001289481.1:p.Ala462Thr, NP_001311124.1:p.Ala465Thr, XP_047298731.1:p.Ala465Thr, XP_047298732.1:p.Ala462Thr, XP_047298734.1:p.Ala281Thr, XP_047298733.1:p.Ala465Thr

Select item 140856942614.

rs1408569426 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: Y:12916412 (GRCh38)
Y:15028324 (GRCh37)
Canonical SPDI:: NC_000024.10:12916411:A:T
Gene:: DDX3Y (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.12916412A>T, NC_000024.9:g.15028324A>T, NG_012831.1:g.17306A>T, NM_004660.5:c.1461A>T, NM_004660.4:c.1461A>T, NM_004660.3:c.1461A>T, NM_001122665.3:c.1461A>T, NM_001122665.2:c.1461A>T, NM_001122665.1:c.1461A>T, NM_001302552.3:c.1452A>T, NM_001302552.2:c.1452A>T, NM_001302552.1:c.1452A>T, NR_136718.2:n.1928A>T, NR_136718.1:n.2010A>T, NR_136716.2:n.1848A>T, NR_136716.1:n.1930A>T, NR_136720.2:n.1848A>T, NR_136720.1:n.1930A>T, NR_136719.2:n.1718A>T, NR_136719.1:n.1800A>T, NR_136717.2:n.1610A>T, NR_136717.1:n.1692A>T, NR_136721.2:n.1513A>T, NR_136721.1:n.1523A>T, NM_001324195.2:c.1461A>T, NM_001324195.1:c.1461A>T, NR_136723.1:n.1925A>T, NR_136724.1:n.1845A>T, NR_136722.1:n.1607A>T, XM_047442775.1:c.1461A>T, XM_047442776.1:c.1452A>T, XM_047442778.1:c.909A>T, XM_047442777.1:c.1461A>T

Select item 138892642015.

rs1388926420 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:12916333 (GRCh38)
Y:15028245 (GRCh37)
Canonical SPDI:: NC_000024.10:12916332:A:G
Gene:: DDX3Y (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.00001/1 (GnomAD_exomes)
G=0.00007/2 (GnomAD)
HGVS:: NC_000024.10:g.12916333A>G, NC_000024.9:g.15028245A>G, NG_012831.1:g.17227A>G, NM_004660.5:c.1382A>G, NM_004660.4:c.1382A>G, NM_004660.3:c.1382A>G, NM_001122665.3:c.1382A>G, NM_001122665.2:c.1382A>G, NM_001122665.1:c.1382A>G, NM_001302552.3:c.1373A>G, NM_001302552.2:c.1373A>G, NM_001302552.1:c.1373A>G, NR_136718.2:n.1849A>G, NR_136718.1:n.1931A>G, NR_136716.2:n.1769A>G, NR_136716.1:n.1851A>G, NR_136720.2:n.1769A>G, NR_136720.1:n.1851A>G, NR_136719.2:n.1639A>G, NR_136719.1:n.1721A>G, NR_136717.2:n.1531A>G, NR_136717.1:n.1613A>G, NR_136721.2:n.1434A>G, NR_136721.1:n.1444A>G, NM_001324195.2:c.1382A>G, NM_001324195.1:c.1382A>G, NR_136723.1:n.1846A>G, NR_136724.1:n.1766A>G, NR_136722.1:n.1528A>G, XM_047442775.1:c.1382A>G, XM_047442776.1:c.1373A>G, XM_047442778.1:c.830A>G, XM_047442777.1:c.1382A>G, NP_004651.2:p.His461Arg, NP_001116137.1:p.His461Arg, NP_001289481.1:p.His458Arg, NP_001311124.1:p.His461Arg, XP_047298731.1:p.His461Arg, XP_047298732.1:p.His458Arg, XP_047298734.1:p.His277Arg, XP_047298733.1:p.His461Arg

Select item 138797832416.

rs1387978324 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:12915019 (GRCh38)
Y:15026931 (GRCh37)
Canonical SPDI:: NC_000024.10:12915018:T:C
Gene:: DDX3Y (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.12915019T>C, NC_000024.9:g.15026931T>C, NG_012831.1:g.15913T>C, NR_136718.2:n.1278T>C, NR_136718.1:n.1360T>C, NR_136716.2:n.1198T>C, NR_136716.1:n.1280T>C, NR_136720.2:n.1198T>C, NR_136720.1:n.1280T>C, NR_136719.2:n.1068T>C, NR_136719.1:n.1150T>C, NR_136723.1:n.1275T>C, NR_136724.1:n.1195T>C

Select item 138364265017.

rs1383642650 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:12911845 (GRCh38)
Y:15023757 (GRCh37)
Canonical SPDI:: NC_000024.10:12911844:A:G
Gene:: DDX3Y (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.12911845A>G, NC_000024.9:g.15023757A>G, NG_012831.1:g.12739A>G, NM_004660.5:c.158A>G, NM_004660.4:c.158A>G, NM_004660.3:c.158A>G, NM_001122665.3:c.158A>G, NM_001122665.2:c.158A>G, NM_001122665.1:c.158A>G, NM_001302552.3:c.149A>G, NM_001302552.2:c.149A>G, NM_001302552.1:c.149A>G, NR_136718.2:n.227A>G, NR_136718.1:n.309A>G, NR_136716.2:n.227A>G, NR_136716.1:n.309A>G, NR_136720.2:n.227A>G, NR_136720.1:n.309A>G, NR_136717.2:n.227A>G, NR_136717.1:n.309A>G, NR_136721.2:n.227A>G, NR_136721.1:n.237A>G, NM_001324195.2:c.158A>G, NM_001324195.1:c.158A>G, NR_136723.1:n.224A>G, NR_136724.1:n.224A>G, NR_136722.1:n.224A>G, XM_047442775.1:c.158A>G, XM_047442776.1:c.149A>G, XM_047442777.1:c.158A>G, NP_004651.2:p.His53Arg, NP_001116137.1:p.His53Arg, NP_001289481.1:p.His50Arg, NP_001311124.1:p.His53Arg, XP_047298731.1:p.His53Arg, XP_047298732.1:p.His50Arg, XP_047298733.1:p.His53Arg

Select item 137136191418.

rs1371361914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: Y:12911947 (GRCh38)
Y:15023859 (GRCh37)
Canonical SPDI:: NC_000024.10:12911946:G:T
Gene:: DDX3Y (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.12911947G>T, NC_000024.9:g.15023859G>T, NG_012831.1:g.12841G>T, NM_004660.5:c.260G>T, NM_004660.4:c.260G>T, NM_004660.3:c.260G>T, NM_001122665.3:c.260G>T, NM_001122665.2:c.260G>T, NM_001122665.1:c.260G>T, NM_001302552.3:c.251G>T, NM_001302552.2:c.251G>T, NM_001302552.1:c.251G>T, NR_136718.2:n.329G>T, NR_136718.1:n.411G>T, NR_136716.2:n.329G>T, NR_136716.1:n.411G>T, NR_136720.2:n.329G>T, NR_136720.1:n.411G>T, NR_136717.2:n.329G>T, NR_136717.1:n.411G>T, NR_136721.2:n.329G>T, NR_136721.1:n.339G>T, NM_001324195.2:c.260G>T, NM_001324195.1:c.260G>T, NR_136723.1:n.326G>T, NR_136724.1:n.326G>T, NR_136722.1:n.326G>T, XM_047442775.1:c.260G>T, XM_047442776.1:c.251G>T, XM_047442777.1:c.260G>T, NP_004651.2:p.Arg87Leu, NP_001116137.1:p.Arg87Leu, NP_001289481.1:p.Arg84Leu, NP_001311124.1:p.Arg87Leu, XP_047298731.1:p.Arg87Leu, XP_047298732.1:p.Arg84Leu, XP_047298733.1:p.Arg87Leu

Select item 136612238719.

rs1366122387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:12917517 (GRCh38)
Y:15029429 (GRCh37)
Canonical SPDI:: NC_000024.10:12917516:C:T
Gene:: DDX3Y (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.00003/2 (GnomAD_exomes)
HGVS:: NC_000024.10:g.12917517C>T, NC_000024.9:g.15029429C>T, NG_012831.1:g.18411C>T, NM_004660.5:c.1878C>T, NM_004660.4:c.1878C>T, NM_004660.3:c.1878C>T, NM_001122665.3:c.1878C>T, NM_001122665.2:c.1878C>T, NM_001122665.1:c.1878C>T, NM_001302552.3:c.1869C>T, NM_001302552.2:c.1869C>T, NM_001302552.1:c.1869C>T, NR_136718.2:n.2345C>T, NR_136718.1:n.2427C>T, NR_136716.2:n.2265C>T, NR_136716.1:n.2347C>T, NR_136720.2:n.2196C>T, NR_136720.1:n.2278C>T, NR_136719.2:n.2135C>T, NR_136719.1:n.2217C>T, NR_136717.2:n.2027C>T, NR_136717.1:n.2109C>T, NR_136721.2:n.1930C>T, NR_136721.1:n.1940C>T, NM_001324195.2:c.1809C>T, NM_001324195.1:c.1809C>T, NR_136723.1:n.2342C>T, NR_136724.1:n.2262C>T, NR_136722.1:n.2024C>T, XM_047442775.1:c.1878C>T, XM_047442776.1:c.1800C>T, XM_047442778.1:c.1326C>T

Select item 136260907220.

rs1362609072 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:12912738 (GRCh38)
Y:15024650 (GRCh37)
Canonical SPDI:: NC_000024.10:12912737:G:A
Gene:: DDX3Y (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.12912738G>A, NC_000024.9:g.15024650G>A, NG_012831.1:g.13632G>A, NM_004660.5:c.293G>A, NM_004660.4:c.293G>A, NM_004660.3:c.293G>A, NM_001122665.3:c.293G>A, NM_001122665.2:c.293G>A, NM_001122665.1:c.293G>A, NM_001302552.3:c.284G>A, NM_001302552.2:c.284G>A, NM_001302552.1:c.284G>A, NR_136718.2:n.362G>A, NR_136718.1:n.444G>A, NR_136716.2:n.362G>A, NR_136716.1:n.444G>A, NR_136720.2:n.362G>A, NR_136720.1:n.444G>A, NR_136719.2:n.232G>A, NR_136719.1:n.314G>A, NR_136717.2:n.362G>A, NR_136717.1:n.444G>A, NR_136721.2:n.362G>A, NR_136721.1:n.372G>A, NM_001324195.2:c.293G>A, NM_001324195.1:c.293G>A, NR_136723.1:n.359G>A, NR_136724.1:n.359G>A, NR_136722.1:n.359G>A, XM_047442775.1:c.293G>A, XM_047442776.1:c.284G>A, XM_047442778.1:c.-260G>A, XM_047442777.1:c.293G>A, NP_004651.2:p.Arg98His, NP_001116137.1:p.Arg98His, NP_001289481.1:p.Arg95His, NP_001311124.1:p.Arg98His, XP_047298731.1:p.Arg98His, XP_047298732.1:p.Arg95His, XP_047298733.1:p.Arg98His

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Result Filters

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