SNP Links for Nucleotide (Select 1057866426) - SNP

Select item 14909018791.

rs1490901879 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113437941 (GRCh38)
2:114195518 (GRCh37)
Canonical SPDI:: NC_000002.12:113437940:A:G
Gene:: CBWD2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113437941A>G, NC_000002.11:g.114195518A>G, NM_172003.3:c.73A>G, XM_005263604.3:c.73A>G, XM_005263604.2:c.73A>G, XM_005263604.1:c.73A>G, XM_011510667.2:c.73A>G, XM_011510667.1:c.73A>G, XR_244814.2:n.251A>G, XR_244814.1:n.251A>G, XR_427073.2:n.251A>G, XR_427073.1:n.251A>G, NM_001330340.1:c.-675A>G, NR_138474.1:n.251A>G, NM_001330342.1:c.-577A>G, NM_001330339.1:c.-134A>G, NR_138473.1:n.251A>G, NM_001330336.1:c.73A>G, NM_001330337.1:c.73A>G, XR_007069657.1:n.251A>G, NP_742000.1:p.Met25Val, XP_005263661.1:p.Met25Val, XP_011508969.1:p.Met25Val, NP_001317265.1:p.Met25Val, NP_001317266.1:p.Met25Val

Select item 14900273982.

rs1490027398 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:113437723 (GRCh38)
2:114195300 (GRCh37)
Canonical SPDI:: NC_000002.12:113437722:G:C
Gene:: CBWD2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.113437723G>C, NC_000002.11:g.114195300G>C, NM_172003.3:c.-146G>C, XM_005263604.3:c.-146G>C, XM_005263604.2:c.-146G>C, XM_005263604.1:c.-146G>C, XM_011510667.2:c.-146G>C, XM_011510667.1:c.-146G>C, XR_244814.2:n.33G>C, XR_244814.1:n.33G>C, XR_427073.2:n.33G>C, XR_427073.1:n.33G>C, NM_001330340.1:c.-893G>C, NR_138474.1:n.33G>C, NM_001330342.1:c.-795G>C, NM_001330339.1:c.-352G>C, NR_138473.1:n.33G>C, NM_001330336.1:c.-146G>C, NM_001330337.1:c.-146G>C, XR_007069657.1:n.33G>C

Select item 14890083403.

rs1489008340 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTT [Show Flanks]
Chromosome:: 2:113460674 (GRCh38)
2:114218252 (GRCh37)
Canonical SPDI:: NC_000002.12:113460674:TTT:TTTTTTT
Gene:: CBWD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.113460677_113460678insTTTT, NC_000002.11:g.114218254_114218255insTTTT, NM_172003.3:c.533_534insTTTT, XM_005263604.3:c.533_534insTTTT, XM_005263604.2:c.533_534insTTTT, XM_005263604.1:c.533_534insTTTT, XM_011510667.2:c.533_534insTTTT, XM_011510667.1:c.533_534insTTTT, XR_244814.2:n.711_712insTTTT, XR_244814.1:n.711_712insTTTT, XR_427073.2:n.711_712insTTTT, XR_427073.1:n.711_712insTTTT, NM_001330340.1:c.29_30insTTTT, NR_138474.1:n.809_810insTTTT, NM_001330342.1:c.29_30insTTTT, NM_001330339.1:c.425_426insTTTT, NR_138473.1:n.711_712insTTTT, NM_001330336.1:c.533_534insTTTT, NM_001330337.1:c.533_534insTTTT, XM_047443448.1:c.425_426insTTTT, XR_007069657.1:n.711_712insTTTT, NP_742000.1:p.Leu178fs, XP_005263661.1:p.Leu178fs, XP_011508969.1:p.Leu178fs, NP_001317269.1:p.Leu10fs, NP_001317271.1:p.Leu10fs, NP_001317268.1:p.Leu142fs, NP_001317265.1:p.Leu178fs, NP_001317266.1:p.Leu178fs, XP_047299404.1:p.Leu142fs

Select item 14873870754.

rs1487387075 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:113493990 (GRCh38)
2:114251567 (GRCh37)
Canonical SPDI:: NC_000002.12:113493989:T:C
Gene:: CBWD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000169/2 (ALFA)
C=0.000022/3 (GnomAD)
HGVS:: NC_000002.12:g.113493990T>C, NC_000002.11:g.114251567T>C, NM_172003.3:c.947T>C, XM_005263604.3:c.803T>C, XM_005263604.2:c.803T>C, XM_005263604.1:c.803T>C, XM_011510667.2:c.947T>C, XM_011510667.1:c.947T>C, NM_001330340.1:c.443T>C, NR_138474.1:n.1307T>C, NM_001330342.1:c.443T>C, NM_001330339.1:c.839T>C, NR_138473.1:n.1209T>C, NM_001330336.1:c.890T>C, NM_001330337.1:c.860T>C, XM_047443448.1:c.782T>C, NP_742000.1:p.Leu316Pro, XP_005263661.1:p.Leu268Pro, XP_011508969.1:p.Leu316Pro, NP_001317269.1:p.Leu148Pro, NP_001317271.1:p.Leu148Pro, NP_001317268.1:p.Leu280Pro, NP_001317265.1:p.Leu297Pro, NP_001317266.1:p.Leu287Pro, XP_047299404.1:p.Leu261Pro

Select item 14870276695.

rs1487027669 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:113443791 (GRCh38)
2:114201368 (GRCh37)
Canonical SPDI:: NC_000002.12:113443790:C:G
Gene:: CBWD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113443791C>G, NC_000002.11:g.114201368C>G, NM_172003.3:c.266C>G, XM_005263604.3:c.266C>G, XM_005263604.2:c.266C>G, XM_005263604.1:c.266C>G, XM_011510667.2:c.266C>G, XM_011510667.1:c.266C>G, XR_244814.2:n.444C>G, XR_244814.1:n.444C>G, XR_427073.2:n.444C>G, XR_427073.1:n.444C>G, NM_001330340.1:c.-384C>G, NR_138474.1:n.542C>G, NM_001330342.1:c.-384C>G, NM_001330339.1:c.158C>G, NR_138473.1:n.444C>G, NM_001330336.1:c.266C>G, NM_001330337.1:c.266C>G, XM_047443448.1:c.158C>G, XR_007069657.1:n.444C>G, NP_742000.1:p.Ala89Gly, XP_005263661.1:p.Ala89Gly, XP_011508969.1:p.Ala89Gly, NP_001317268.1:p.Ala53Gly, NP_001317265.1:p.Ala89Gly, NP_001317266.1:p.Ala89Gly, XP_047299404.1:p.Ala53Gly

Select item 14864847246.

rs1486484724 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:113496108 (GRCh38)
2:114253685 (GRCh37)
Canonical SPDI:: NC_000002.12:113496107:T:A
Gene:: CBWD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.113496108T>A, NC_000002.11:g.114253685T>A, NM_172003.3:c.*365T>A, XM_005263604.3:c.*365T>A, XM_005263604.2:c.*365T>A, XM_005263604.1:c.*365T>A, XM_011510667.2:c.*460T>A, XM_011510667.1:c.*460T>A, NM_001330340.1:c.*365T>A, NR_138474.1:n.1913T>A, NM_001330342.1:c.*365T>A, NM_001330339.1:c.*365T>A, NR_138473.1:n.1815T>A, NM_001330336.1:c.*365T>A, NM_001330337.1:c.*365T>A, XM_047443448.1:c.*365T>A

Select item 14859741187.

rs1485974118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:113495771 (GRCh38)
2:114253348 (GRCh37)
Canonical SPDI:: NC_000002.12:113495770:T:A,NC_000002.12:113495770:T:C
Gene:: CBWD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.113495771T>A, NC_000002.12:g.113495771T>C, NC_000002.11:g.114253348T>A, NC_000002.11:g.114253348T>C, NM_172003.3:c.*28T>A, NM_172003.3:c.*28T>C, XM_005263604.3:c.*28T>A, XM_005263604.3:c.*28T>C, XM_005263604.2:c.*28T>A, XM_005263604.2:c.*28T>C, XM_005263604.1:c.*28T>A, XM_005263604.1:c.*28T>C, XM_011510667.2:c.*123T>A, XM_011510667.2:c.*123T>C, XM_011510667.1:c.*123T>A, XM_011510667.1:c.*123T>C, NM_001330340.1:c.*28T>A, NM_001330340.1:c.*28T>C, NR_138474.1:n.1576T>A, NR_138474.1:n.1576T>C, NM_001330342.1:c.*28T>A, NM_001330342.1:c.*28T>C, NM_001330339.1:c.*28T>A, NM_001330339.1:c.*28T>C, NR_138473.1:n.1478T>A, NR_138473.1:n.1478T>C, NM_001330336.1:c.*28T>A, NM_001330336.1:c.*28T>C, NM_001330337.1:c.*28T>A, NM_001330337.1:c.*28T>C, XM_047443448.1:c.*28T>A, XM_047443448.1:c.*28T>C

Select item 14835016848.

rs1483501684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:113445051 (GRCh38)
2:114202628 (GRCh37)
Canonical SPDI:: NC_000002.12:113445050:C:G
Gene:: CBWD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113445051C>G, NC_000002.11:g.114202628C>G, NM_172003.3:c.426C>G, XM_005263604.3:c.426C>G, XM_005263604.2:c.426C>G, XM_005263604.1:c.426C>G, XM_011510667.2:c.426C>G, XM_011510667.1:c.426C>G, XR_244814.2:n.604C>G, XR_244814.1:n.604C>G, XR_427073.2:n.604C>G, XR_427073.1:n.604C>G, NM_001330340.1:c.-224C>G, NR_138474.1:n.702C>G, NM_001330342.1:c.-224C>G, NM_001330339.1:c.318C>G, NR_138473.1:n.604C>G, NM_001330336.1:c.426C>G, NM_001330337.1:c.426C>G, XM_047443448.1:c.318C>G, XR_007069657.1:n.604C>G, NP_742000.1:p.Asp142Glu, XP_005263661.1:p.Asp142Glu, XP_011508969.1:p.Asp142Glu, NP_001317268.1:p.Asp106Glu, NP_001317265.1:p.Asp142Glu, NP_001317266.1:p.Asp142Glu, XP_047299404.1:p.Asp106Glu

Select item 14819927179.

rs1481992717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113441351 (GRCh38)
2:114198928 (GRCh37)
Canonical SPDI:: NC_000002.12:113441350:G:A
Gene:: CBWD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00003/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.113441351G>A, NC_000002.11:g.114198928G>A, NM_172003.3:c.155G>A, XM_005263604.3:c.155G>A, XM_005263604.2:c.155G>A, XM_005263604.1:c.155G>A, XM_011510667.2:c.155G>A, XM_011510667.1:c.155G>A, XR_244814.2:n.333G>A, XR_244814.1:n.333G>A, XR_427073.2:n.333G>A, XR_427073.1:n.333G>A, NM_001330340.1:c.-495G>A, NR_138474.1:n.431G>A, NM_001330342.1:c.-495G>A, NM_001330339.1:c.47G>A, NR_138473.1:n.333G>A, NM_001330336.1:c.155G>A, NM_001330337.1:c.155G>A, XM_047443448.1:c.47G>A, XR_007069657.1:n.333G>A, NP_742000.1:p.Gly52Asp, XP_005263661.1:p.Gly52Asp, XP_011508969.1:p.Gly52Asp, NP_001317268.1:p.Gly16Asp, NP_001317265.1:p.Gly52Asp, NP_001317266.1:p.Gly52Asp, XP_047299404.1:p.Gly16Asp

Select item 148093978310.

rs1480939783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:113441407 (GRCh38)
2:114198984 (GRCh37)
Canonical SPDI:: NC_000002.12:113441406:G:A,NC_000002.12:113441406:G:C
Gene:: CBWD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.113441407G>A, NC_000002.12:g.113441407G>C, NC_000002.11:g.114198984G>A, NC_000002.11:g.114198984G>C, NM_172003.3:c.211G>A, NM_172003.3:c.211G>C, XM_005263604.3:c.211G>A, XM_005263604.3:c.211G>C, XM_005263604.2:c.211G>A, XM_005263604.2:c.211G>C, XM_005263604.1:c.211G>A, XM_005263604.1:c.211G>C, XM_011510667.2:c.211G>A, XM_011510667.2:c.211G>C, XM_011510667.1:c.211G>A, XM_011510667.1:c.211G>C, XR_244814.2:n.389G>A, XR_244814.2:n.389G>C, XR_244814.1:n.389G>A, XR_244814.1:n.389G>C, XR_427073.2:n.389G>A, XR_427073.2:n.389G>C, XR_427073.1:n.389G>A, XR_427073.1:n.389G>C, NM_001330340.1:c.-439G>A, NM_001330340.1:c.-439G>C, NR_138474.1:n.487G>A, NR_138474.1:n.487G>C, NM_001330342.1:c.-439G>A, NM_001330342.1:c.-439G>C, NM_001330339.1:c.103G>A, NM_001330339.1:c.103G>C, NR_138473.1:n.389G>A, NR_138473.1:n.389G>C, NM_001330336.1:c.211G>A, NM_001330336.1:c.211G>C, NM_001330337.1:c.211G>A, NM_001330337.1:c.211G>C, XM_047443448.1:c.103G>A, XM_047443448.1:c.103G>C, XR_007069657.1:n.389G>A, XR_007069657.1:n.389G>C, NP_742000.1:p.Val71Ile, NP_742000.1:p.Val71Leu, XP_005263661.1:p.Val71Ile, XP_005263661.1:p.Val71Leu, XP_011508969.1:p.Val71Ile, XP_011508969.1:p.Val71Leu, NP_001317268.1:p.Val35Ile, NP_001317268.1:p.Val35Leu, NP_001317265.1:p.Val71Ile, NP_001317265.1:p.Val71Leu, NP_001317266.1:p.Val71Ile, NP_001317266.1:p.Val71Leu, XP_047299404.1:p.Val35Ile, XP_047299404.1:p.Val35Leu

Select item 147589150911.

rs1475891509 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113465156 (GRCh38)
2:114222733 (GRCh37)
Canonical SPDI:: NC_000002.12:113465155:A:G
Gene:: CBWD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.113465156A>G, NC_000002.11:g.114222733A>G, NM_172003.3:c.690A>G, XM_005263604.3:c.603A>G, XM_005263604.2:c.603A>G, XM_005263604.1:c.603A>G, XM_011510667.2:c.690A>G, XM_011510667.1:c.690A>G, XR_244814.2:n.868A>G, XR_244814.1:n.868A>G, XR_427073.2:n.781A>G, XR_427073.1:n.781A>G, NM_001330340.1:c.186A>G, NR_138474.1:n.966A>G, NM_001330342.1:c.186A>G, NM_001330339.1:c.582A>G, NR_138473.1:n.868A>G, NM_001330336.1:c.690A>G, NM_001330337.1:c.603A>G, XM_047443448.1:c.582A>G, XR_007069657.1:n.781A>G

Select item 147564701612.

rs1475647016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113437713 (GRCh38)
2:114195290 (GRCh37)
Canonical SPDI:: NC_000002.12:113437712:C:T
Gene:: CBWD2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.113437713C>T, NC_000002.11:g.114195290C>T, NM_172003.3:c.-156C>T, XM_005263604.3:c.-156C>T, XM_005263604.2:c.-156C>T, XM_005263604.1:c.-156C>T, XM_011510667.2:c.-156C>T, XM_011510667.1:c.-156C>T, XR_244814.2:n.23C>T, XR_244814.1:n.23C>T, XR_427073.2:n.23C>T, XR_427073.1:n.23C>T, NM_001330340.1:c.-903C>T, NR_138474.1:n.23C>T, NM_001330342.1:c.-805C>T, NM_001330339.1:c.-362C>T, NR_138473.1:n.23C>T, NM_001330336.1:c.-156C>T, NM_001330337.1:c.-156C>T, XR_007069657.1:n.23C>T

Select item 147110634313.

rs1471106343 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:113482216 (GRCh38)
2:114239793 (GRCh37)
Canonical SPDI:: NC_000002.12:113482215:T:A
Gene:: CBWD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,synonymous_variant
HGVS:: NC_000002.12:g.113482216T>A, NC_000002.11:g.114239793T>A, NM_172003.3:c.804T>A, XM_005263604.3:c.660T>A, XM_005263604.2:c.660T>A, XM_005263604.1:c.660T>A, XM_011510667.2:c.804T>A, XM_011510667.1:c.804T>A, NM_001330340.1:c.300T>A, NR_138474.1:n.1164T>A, NM_001330342.1:c.300T>A, NM_001330339.1:c.696T>A, NR_138473.1:n.1066T>A, NM_001330336.1:c.747T>A, NM_001330337.1:c.717T>A, XM_047443448.1:c.639T>A

Select item 147066207114.

rs1470662071 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113437884 (GRCh38)
2:114195461 (GRCh37)
Canonical SPDI:: NC_000002.12:113437883:G:A
Gene:: CBWD2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant
HGVS:: NC_000002.12:g.113437884G>A, NC_000002.11:g.114195461G>A, NM_172003.3:c.16G>A, XM_005263604.3:c.16G>A, XM_005263604.2:c.16G>A, XM_005263604.1:c.16G>A, XM_011510667.2:c.16G>A, XM_011510667.1:c.16G>A, XR_244814.2:n.194G>A, XR_244814.1:n.194G>A, XR_427073.2:n.194G>A, XR_427073.1:n.194G>A, NM_001330340.1:c.-732G>A, NR_138474.1:n.194G>A, NM_001330342.1:c.-634G>A, NM_001330339.1:c.-191G>A, NR_138473.1:n.194G>A, NM_001330336.1:c.16G>A, NM_001330337.1:c.16G>A, XR_007069657.1:n.194G>A, NP_742000.1:p.Gly6Arg, XP_005263661.1:p.Gly6Arg, XP_011508969.1:p.Gly6Arg, NP_001317265.1:p.Gly6Arg, NP_001317266.1:p.Gly6Arg

Select item 146914924915.

rs1469149249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:113437799 (GRCh38)
2:114195376 (GRCh37)
Canonical SPDI:: NC_000002.12:113437798:C:A,NC_000002.12:113437798:C:T
Gene:: CBWD2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.113437799C>A, NC_000002.12:g.113437799C>T, NC_000002.11:g.114195376C>A, NC_000002.11:g.114195376C>T, NM_172003.3:c.-70C>A, NM_172003.3:c.-70C>T, XM_005263604.3:c.-70C>A, XM_005263604.3:c.-70C>T, XM_005263604.2:c.-70C>A, XM_005263604.2:c.-70C>T, XM_005263604.1:c.-70C>A, XM_005263604.1:c.-70C>T, XM_011510667.2:c.-70C>A, XM_011510667.2:c.-70C>T, XM_011510667.1:c.-70C>A, XM_011510667.1:c.-70C>T, XR_244814.2:n.109C>A, XR_244814.2:n.109C>T, XR_244814.1:n.109C>A, XR_244814.1:n.109C>T, XR_427073.2:n.109C>A, XR_427073.2:n.109C>T, XR_427073.1:n.109C>A, XR_427073.1:n.109C>T, NM_001330340.1:c.-817C>A, NM_001330340.1:c.-817C>T, NR_138474.1:n.109C>A, NR_138474.1:n.109C>T, NM_001330342.1:c.-719C>A, NM_001330342.1:c.-719C>T, NM_001330339.1:c.-276C>A, NM_001330339.1:c.-276C>T, NR_138473.1:n.109C>A, NR_138473.1:n.109C>T, NM_001330336.1:c.-70C>A, NM_001330336.1:c.-70C>T, NM_001330337.1:c.-70C>A, NM_001330337.1:c.-70C>T, XR_007069657.1:n.109C>A, XR_007069657.1:n.109C>T

Select item 146302803116.

rs1463028031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113465132 (GRCh38)
2:114222709 (GRCh37)
Canonical SPDI:: NC_000002.12:113465131:C:T
Gene:: CBWD2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113465132C>T, NC_000002.11:g.114222709C>T, NM_172003.3:c.666C>T, XM_005263604.3:c.579C>T, XM_005263604.2:c.579C>T, XM_005263604.1:c.579C>T, XM_011510667.2:c.666C>T, XM_011510667.1:c.666C>T, XR_244814.2:n.844C>T, XR_244814.1:n.844C>T, XR_427073.2:n.757C>T, XR_427073.1:n.757C>T, NM_001330340.1:c.162C>T, NR_138474.1:n.942C>T, NM_001330342.1:c.162C>T, NM_001330339.1:c.558C>T, NR_138473.1:n.844C>T, NM_001330336.1:c.666C>T, NM_001330337.1:c.579C>T, XM_047443448.1:c.558C>T, XR_007069657.1:n.757C>T

Select item 146190788817.

rs1461907888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:113437698 (GRCh38)
2:114195275 (GRCh37)
Canonical SPDI:: NC_000002.12:113437697:G:A,NC_000002.12:113437697:G:C
Gene:: CBWD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113437698G>A, NC_000002.12:g.113437698G>C, NC_000002.11:g.114195275G>A, NC_000002.11:g.114195275G>C, NM_172003.3:c.-171G>A, NM_172003.3:c.-171G>C, XM_005263604.3:c.-171G>A, XM_005263604.3:c.-171G>C, XM_005263604.2:c.-171G>A, XM_005263604.2:c.-171G>C, XM_005263604.1:c.-171G>A, XM_005263604.1:c.-171G>C, XM_011510667.2:c.-171G>A, XM_011510667.2:c.-171G>C, XM_011510667.1:c.-171G>A, XM_011510667.1:c.-171G>C, XR_244814.2:n.8G>A, XR_244814.2:n.8G>C, XR_244814.1:n.8G>A, XR_244814.1:n.8G>C, XR_427073.2:n.8G>A, XR_427073.2:n.8G>C, XR_427073.1:n.8G>A, XR_427073.1:n.8G>C, NM_001330340.1:c.-918G>A, NM_001330340.1:c.-918G>C, NR_138474.1:n.8G>A, NR_138474.1:n.8G>C, NM_001330342.1:c.-820G>A, NM_001330342.1:c.-820G>C, NM_001330339.1:c.-377G>A, NM_001330339.1:c.-377G>C, NR_138473.1:n.8G>A, NR_138473.1:n.8G>C, NM_001330336.1:c.-171G>A, NM_001330336.1:c.-171G>C, NM_001330337.1:c.-171G>A, NM_001330337.1:c.-171G>C, XR_007069657.1:n.8G>A, XR_007069657.1:n.8G>C

Select item 146104521518.

rs1461045215 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113441398 (GRCh38)
2:114198975 (GRCh37)
Canonical SPDI:: NC_000002.12:113441397:A:G
Gene:: CBWD2 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_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_000002.12:g.113441398A>G, NC_000002.11:g.114198975A>G, NM_172003.3:c.202A>G, XM_005263604.3:c.202A>G, XM_005263604.2:c.202A>G, XM_005263604.1:c.202A>G, XM_011510667.2:c.202A>G, XM_011510667.1:c.202A>G, XR_244814.2:n.380A>G, XR_244814.1:n.380A>G, XR_427073.2:n.380A>G, XR_427073.1:n.380A>G, NM_001330340.1:c.-448A>G, NR_138474.1:n.478A>G, NM_001330342.1:c.-448A>G, NM_001330339.1:c.94A>G, NR_138473.1:n.380A>G, NM_001330336.1:c.202A>G, NM_001330337.1:c.202A>G, XM_047443448.1:c.94A>G, XR_007069657.1:n.380A>G, NP_742000.1:p.Ser68Gly, XP_005263661.1:p.Ser68Gly, XP_011508969.1:p.Ser68Gly, NP_001317268.1:p.Ser32Gly, NP_001317265.1:p.Ser68Gly, NP_001317266.1:p.Ser68Gly, XP_047299404.1:p.Ser32Gly

Select item 145997875319.

rs1459978753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:113495239 (GRCh38)
2:114252816 (GRCh37)
Canonical SPDI:: NC_000002.12:113495238:G:T
Gene:: CBWD2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.113495239G>T, NC_000002.11:g.114252816G>T, NM_172003.3:c.1071G>T, XM_005263604.3:c.927G>T, XM_005263604.2:c.927G>T, XM_005263604.1:c.927G>T, NM_001330340.1:c.567G>T, NR_138474.1:n.1431G>T, NM_001330342.1:c.567G>T, NM_001330339.1:c.963G>T, NR_138473.1:n.1333G>T, NM_001330336.1:c.1014G>T, NM_001330337.1:c.984G>T, XM_047443448.1:c.906G>T, NP_742000.1:p.Leu357Phe, XP_005263661.1:p.Leu309Phe, NP_001317269.1:p.Leu189Phe, NP_001317271.1:p.Leu189Phe, NP_001317268.1:p.Leu321Phe, NP_001317265.1:p.Leu338Phe, NP_001317266.1:p.Leu328Phe, XP_047299404.1:p.Leu302Phe

Select item 145880075220.

rs1458800752 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 2:113443836 (GRCh38)
2:114201413 (GRCh37)
Canonical SPDI:: NC_000002.12:113443835:G:
Gene:: CBWD2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.113443836del, NC_000002.11:g.114201413del, NM_172003.3:c.311del, XM_005263604.3:c.311del, XM_005263604.2:c.311del, XM_005263604.1:c.311del, XM_011510667.2:c.311del, XM_011510667.1:c.311del, XR_244814.2:n.489del, XR_244814.1:n.489del, XR_427073.2:n.489del, XR_427073.1:n.489del, NM_001330340.1:c.-339del, NR_138474.1:n.587del, NM_001330342.1:c.-339del, NM_001330339.1:c.203del, NR_138473.1:n.489del, NM_001330336.1:c.311del, NM_001330337.1:c.311del, XM_047443448.1:c.203del, XR_007069657.1:n.489del, NP_742000.1:p.Arg104fs, XP_005263661.1:p.Arg104fs, XP_011508969.1:p.Arg104fs, NP_001317268.1:p.Arg68fs, NP_001317265.1:p.Arg104fs, NP_001317266.1:p.Arg104fs, XP_047299404.1:p.Arg68fs

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Result Filters

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Items: 1 to 20 of 521

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