SNP Links for Nucleotide (Select 1131345307) - SNP

Links from Nucleotide

Items: 1 to 20 of 703

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Select item 14899180311.

rs1489918031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75845886 (GRCh38)
17:73841967 (GRCh37)
Canonical SPDI:: NC_000017.11:75845885:G:A
Gene:: WBP2 (Varview), UNC13D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: A=0.0001/1 (GnomAD_exomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.75845886G>A, NC_000017.10:g.73841967G>A, NG_007266.1:g.3832C>T, NM_012478.4:c.*848C>T, NM_012478.3:c.*848C>T, NM_001330499.2:c.*848C>T, NM_001330499.1:c.*848C>T, NM_001348170.1:c.*848C>T, XM_047435712.1:c.*848C>T

Select item 14898413832.

rs1489841383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:75847576 (GRCh38)
17:73843657 (GRCh37)
Canonical SPDI:: NC_000017.11:75847575:G:T
Gene:: WBP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.75847576G>T, NC_000017.10:g.73843657G>T, NG_007266.1:g.2142C>A, NM_012478.4:c.566C>A, NM_012478.3:c.566C>A, NM_001330499.2:c.431C>A, NM_001330499.1:c.431C>A, NM_001348170.1:c.566C>A, XM_047435712.1:c.500C>A, NP_036610.2:p.Ala189Asp, NP_001317428.1:p.Ala144Asp, NP_001335099.1:p.Ala189Asp, XP_047291668.1:p.Ala167Asp

Select item 14894637753.

rs1489463775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75851582 (GRCh38)
17:73847663 (GRCh37)
Canonical SPDI:: NC_000017.11:75851581:G:A
Gene:: WBP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75851582G>A, NC_000017.10:g.73847663G>A, NM_012478.4:c.154C>T, NM_012478.3:c.154C>T, NM_001330499.2:c.154C>T, NM_001330499.1:c.154C>T, NM_001348170.1:c.154C>T, XM_047435712.1:c.88C>T, NP_036610.2:p.Leu52Phe, NP_001317428.1:p.Leu52Phe, NP_001335099.1:p.Leu52Phe, XP_047291668.1:p.Leu30Phe

Select item 14884137424.

rs1488413742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75846403 (GRCh38)
17:73842484 (GRCh37)
Canonical SPDI:: NC_000017.11:75846402:G:A
Gene:: WBP2 (Varview), UNC13D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75846403G>A, NC_000017.10:g.73842484G>A, NG_007266.1:g.3315C>T, NM_012478.4:c.*331C>T, NM_012478.3:c.*331C>T, NM_001330499.2:c.*331C>T, NM_001330499.1:c.*331C>T, NM_001348170.1:c.*331C>T, XM_047435712.1:c.*331C>T

Select item 14875123195.

rs1487512319 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:75846450 (GRCh38)
17:73842531 (GRCh37)
Canonical SPDI:: NC_000017.11:75846449:A:G
Gene:: WBP2 (Varview)
Functional Consequence:: 3_prime_UTR_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_000017.11:g.75846450A>G, NC_000017.10:g.73842531A>G, NG_007266.1:g.3268T>C, NM_012478.4:c.*284T>C, NM_012478.3:c.*284T>C, NM_001330499.2:c.*284T>C, NM_001330499.1:c.*284T>C, NM_001348170.1:c.*284T>C, XM_047435712.1:c.*284T>C

Select item 14872099256.

rs1487209925 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75846032 (GRCh38)
17:73842113 (GRCh37)
Canonical SPDI:: NC_000017.11:75846031:C:T
Gene:: WBP2 (Varview), UNC13D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75846032C>T, NC_000017.10:g.73842113C>T, NG_007266.1:g.3686G>A, NM_012478.4:c.*702G>A, NM_012478.3:c.*702G>A, NM_001330499.2:c.*702G>A, NM_001330499.1:c.*702G>A, NM_001348170.1:c.*702G>A, XM_047435712.1:c.*702G>A

Select item 14858747727.

rs1485874772 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCCT [Show Flanks]
Chromosome:: 17:75846138 (GRCh38)
17:73842220 (GRCh37)
Canonical SPDI:: NC_000017.11:75846138:CCCT:CCCTCCCT
Gene:: WBP2 (Varview), UNC13D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: CCCTCCCT=0./0 (ALFA)
CCCT=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75846139_75846142dup, NC_000017.10:g.73842220_73842223dup, NG_007266.1:g.3576_3579dup, NM_012478.4:c.*592_*595dup, NM_012478.3:c.*592_*595dup, NM_001330499.2:c.*592_*595dup, NM_001330499.1:c.*592_*595dup, NM_001348170.1:c.*592_*595dup, XM_047435712.1:c.*592_*595dup

Select item 14820387458.

rs1482038745 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:75849694 (GRCh38)
17:73845775 (GRCh37)
Canonical SPDI:: NC_000017.11:75849693:T:A
Gene:: WBP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75849694T>A, NC_000017.10:g.73845775T>A, NG_007266.1:g.24A>T, NM_012478.4:c.214A>T, NM_012478.3:c.214A>T, NM_001330499.2:c.214A>T, NM_001330499.1:c.214A>T, NM_001348170.1:c.214A>T, XM_047435712.1:c.148A>T, NP_036610.2:p.Met72Leu, NP_001317428.1:p.Met72Leu, NP_001335099.1:p.Met72Leu, XP_047291668.1:p.Met50Leu

Select item 14804582359.

rs1480458235 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75846568 (GRCh38)
17:73842649 (GRCh37)
Canonical SPDI:: NC_000017.11:75846567:C:T
Gene:: WBP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000214/3 (ALFA)
T=0.000016/2 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
T=0.000036/5 (GnomAD)
T=0.000318/5 (TOMMO)
HGVS:: NC_000017.11:g.75846568C>T, NC_000017.10:g.73842649C>T, NG_007266.1:g.3150G>A, NM_012478.4:c.*166G>A, NM_012478.3:c.*166G>A, NM_001330499.2:c.*166G>A, NM_001330499.1:c.*166G>A, NM_001348170.1:c.*166G>A, XM_047435712.1:c.*166G>A

Select item 147620103010.

rs1476201030 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:75846425 (GRCh38)
17:73842506 (GRCh37)
Canonical SPDI:: NC_000017.11:75846420:AGAGAG:AGAG
Gene:: WBP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000038/10 (TOPMED)
HGVS:: NC_000017.11:g.75846421AG[2], NC_000017.10:g.73842502AG[2], NG_007266.1:g.3292CT[2], NM_012478.4:c.*308CT[2], NM_012478.3:c.*308CT[2], NM_001330499.2:c.*308CT[2], NM_001330499.1:c.*308CT[2], NM_001348170.1:c.*308CT[2], XM_047435712.1:c.*308CT[2]

Select item 147566347511.

rs1475663475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75855311 (GRCh38)
17:73851392 (GRCh37)
Canonical SPDI:: NC_000017.11:75855310:G:A
Gene:: WBP2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.75855311G>A, NC_000017.10:g.73851392G>A, NM_012478.4:c.-14C>T, NM_012478.3:c.-14C>T, NM_001330499.2:c.-14C>T, NM_001330499.1:c.-14C>T, NM_001348170.1:c.-14C>T

Select item 147525630112.

rs1475256301 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:75846232 (GRCh38)
17:73842313 (GRCh37)
Canonical SPDI:: NC_000017.11:75846231:A:G
Gene:: WBP2 (Varview), UNC13D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.75846232A>G, NC_000017.10:g.73842313A>G, NG_007266.1:g.3486T>C, NM_012478.4:c.*502T>C, NM_012478.3:c.*502T>C, NM_001330499.2:c.*502T>C, NM_001330499.1:c.*502T>C, NM_001348170.1:c.*502T>C, XM_047435712.1:c.*502T>C

Select item 147071048913.

rs1470710489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:75845901 (GRCh38)
17:73841982 (GRCh37)
Canonical SPDI:: NC_000017.11:75845900:G:C
Gene:: WBP2 (Varview), UNC13D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000038/10 (TOPMED)
HGVS:: NC_000017.11:g.75845901G>C, NC_000017.10:g.73841982G>C, NG_007266.1:g.3817C>G, NM_012478.4:c.*833C>G, NM_012478.3:c.*833C>G, NM_001330499.2:c.*833C>G, NM_001330499.1:c.*833C>G, NM_001348170.1:c.*833C>G, XM_047435712.1:c.*833C>G

Select item 146899489214.

rs1468994892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75846299 (GRCh38)
17:73842380 (GRCh37)
Canonical SPDI:: NC_000017.11:75846298:G:A
Gene:: WBP2 (Varview), UNC13D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_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_000017.11:g.75846299G>A, NC_000017.10:g.73842380G>A, NG_007266.1:g.3419C>T, NM_012478.4:c.*435C>T, NM_012478.3:c.*435C>T, NM_001330499.2:c.*435C>T, NM_001330499.1:c.*435C>T, NM_001348170.1:c.*435C>T, XM_047435712.1:c.*435C>T

Select item 146791059715.

rs1467910597 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 17:75851643 (GRCh38)
17:73847724 (GRCh37)
Canonical SPDI:: NC_000017.11:75851642:T:
Gene:: WBP2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75851643del, NC_000017.10:g.73847724del, NM_012478.4:c.93del, NM_012478.3:c.93del, NM_001330499.2:c.93del, NM_001330499.1:c.93del, NM_001348170.1:c.93del, XM_047435712.1:c.27del, NP_036610.2:p.Phe32fs, NP_001317428.1:p.Phe32fs, NP_001335099.1:p.Phe32fs, XP_047291668.1:p.Phe10fs

Select item 146671959816.

rs1466719598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75846197 (GRCh38)
17:73842278 (GRCh37)
Canonical SPDI:: NC_000017.11:75846196:G:A
Gene:: WBP2 (Varview), UNC13D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.75846197G>A, NC_000017.10:g.73842278G>A, NG_007266.1:g.3521C>T, NM_012478.4:c.*537C>T, NM_012478.3:c.*537C>T, NM_001330499.2:c.*537C>T, NM_001330499.1:c.*537C>T, NM_001348170.1:c.*537C>T, XM_047435712.1:c.*537C>T

Select item 146410797817.

rs1464107978 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:75845788 (GRCh38)
17:73841869 (GRCh37)
Canonical SPDI:: NC_000017.11:75845787:T:C
Gene:: WBP2 (Varview), UNC13D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.75845788T>C, NC_000017.10:g.73841869T>C, NG_007266.1:g.3930A>G, NM_012478.4:c.*946A>G, NM_012478.3:c.*946A>G, NM_001330499.2:c.*946A>G, NM_001330499.1:c.*946A>G, NM_001348170.1:c.*946A>G, XM_047435712.1:c.*946A>G

Select item 146308160318.

rs1463081603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75846689 (GRCh38)
17:73842770 (GRCh37)
Canonical SPDI:: NC_000017.11:75846688:G:A
Gene:: WBP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000017.11:g.75846689G>A, NC_000017.10:g.73842770G>A, NG_007266.1:g.3029C>T, NM_012478.4:c.*45C>T, NM_012478.3:c.*45C>T, NM_001330499.2:c.*45C>T, NM_001330499.1:c.*45C>T, NM_001348170.1:c.*45C>T, XM_047435712.1:c.*45C>T

Select item 146295517019.

rs1462955170 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:75846286 (GRCh38)
17:73842367 (GRCh37)
Canonical SPDI:: NC_000017.11:75846285:A:G
Gene:: WBP2 (Varview), UNC13D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.75846286A>G, NC_000017.10:g.73842367A>G, NG_007266.1:g.3432T>C, NM_012478.4:c.*448T>C, NM_012478.3:c.*448T>C, NM_001330499.2:c.*448T>C, NM_001330499.1:c.*448T>C, NM_001348170.1:c.*448T>C, XM_047435712.1:c.*448T>C

Select item 145921154420.

rs1459211544 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:75846294 (GRCh38)
17:73842375 (GRCh37)
Canonical SPDI:: NC_000017.11:75846293:A:G
Gene:: WBP2 (Varview), UNC13D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.75846294A>G, NC_000017.10:g.73842375A>G, NG_007266.1:g.3424T>C, NM_012478.4:c.*440T>C, NM_012478.3:c.*440T>C, NM_001330499.2:c.*440T>C, NM_001330499.1:c.*440T>C, NM_001348170.1:c.*440T>C, XM_047435712.1:c.*440T>C

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