SNP Links for Gene (Select 100286938) - SNP

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Select item 14896582001.

rs1489658200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:77179440 (GRCh38)
9:79794356 (GRCh37)
Canonical SPDI:: NC_000009.12:77179439:G:A,NC_000009.12:77179439:G:T
Gene:: VPS13A (Varview), VPS13A-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.77179440G>A, NC_000009.12:g.77179440G>T, NC_000009.11:g.79794356G>A, NC_000009.11:g.79794356G>T, NG_008931.1:g.6996G>A, NG_008931.1:g.6996G>T

Select item 14863874822.

rs1486387482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:77178511 (GRCh38)
9:79793427 (GRCh37)
Canonical SPDI:: NC_000009.12:77178510:T:G
Gene:: VPS13A (Varview), VPS13A-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000009.12:g.77178511T>G, NC_000009.11:g.79793427T>G, NG_008931.1:g.6067T>G

Select item 14859957133.

rs1485995713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:77177601 (GRCh38)
9:79792517 (GRCh37)
Canonical SPDI:: NC_000009.12:77177600:G:A
Gene:: VPS13A (Varview), VPS13A-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.77177601G>A, NC_000009.11:g.79792517G>A, NG_008931.1:g.5157G>A, NM_015186.4:c.-104G>A, NM_015186.3:c.-104G>A, NM_033305.3:c.-104G>A, NM_033305.2:c.-104G>A, NM_001018038.3:c.-104G>A, NM_001018038.2:c.-104G>A, NM_001018037.2:c.-104G>A, NM_001018037.1:c.-104G>A, NG_074355.1:g.449G>A

Select item 14853700124.

rs1485370012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:77179596 (GRCh38)
9:79794512 (GRCh37)
Canonical SPDI:: NC_000009.12:77179595:G:T
Gene:: VPS13A (Varview), VPS13A-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.77179596G>T, NC_000009.11:g.79794512G>T, NG_008931.1:g.7152G>T

Select item 14853682835.

rs1485368283 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:77177815 (GRCh38)
9:79792731 (GRCh37)
Canonical SPDI:: NC_000009.12:77177814:C:T
Gene:: VPS13A (Varview), VPS13A-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.77177815C>T, NC_000009.11:g.79792731C>T, NG_008931.1:g.5371C>T, NR_026668.2:n.103G>A

Select item 14831452766.

rs1483145276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:77177583 (GRCh38)
9:79792499 (GRCh37)
Canonical SPDI:: NC_000009.12:77177582:G:A
Gene:: VPS13A (Varview), VPS13A-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000564/1 (Korea1K)
HGVS:: NC_000009.12:g.77177583G>A, NC_000009.11:g.79792499G>A, NG_008931.1:g.5139G>A, NM_015186.4:c.-122G>A, NM_015186.3:c.-122G>A, NM_033305.3:c.-122G>A, NM_033305.2:c.-122G>A, NM_001018038.3:c.-122G>A, NM_001018038.2:c.-122G>A, NM_001018037.2:c.-122G>A, NM_001018037.1:c.-122G>A, NG_074355.1:g.431G>A

Select item 14830599237.

rs1483059923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:77177857 (GRCh38)
9:79792773 (GRCh37)
Canonical SPDI:: NC_000009.12:77177856:C:A
Gene:: VPS13A (Varview), VPS13A-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.77177857C>A, NC_000009.11:g.79792773C>A, NG_008931.1:g.5413C>A, NR_026668.2:n.61G>T

Select item 14816475648.

rs1481647564 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:77177950 (GRCh38)
9:79792866 (GRCh37)
Canonical SPDI:: NC_000009.12:77177949:C:A
Gene:: VPS13A (Varview), VPS13A-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.77177950C>A, NC_000009.11:g.79792866C>A, NG_008931.1:g.5506C>A

Select item 14815531539.

rs1481553153 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:77178689 (GRCh38)
9:79793605 (GRCh37)
Canonical SPDI:: NC_000009.12:77178688:A:G
Gene:: VPS13A (Varview), VPS13A-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.77178689A>G, NC_000009.11:g.79793605A>G, NG_008931.1:g.6245A>G

Select item 148090456710.

rs1480904567 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:77176632 (GRCh38)
9:79791548 (GRCh37)
Canonical SPDI:: NC_000009.12:77176631:A:C
Gene:: VPS13A (Varview), VPS13A-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.77176632A>C, NC_000009.11:g.79791548A>C, NG_008931.1:g.4188A>C

Select item 147959320711.

rs1479593207 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:77179690 (GRCh38)
9:79794606 (GRCh37)
Canonical SPDI:: NC_000009.12:77179689:T:G
Gene:: VPS13A (Varview), VPS13A-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.77179690T>G, NC_000009.11:g.79794606T>G, NG_008931.1:g.7246T>G

Select item 147733919512.

rs1477339195 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:77178407 (GRCh38)
9:79793323 (GRCh37)
Canonical SPDI:: NC_000009.12:77178406:T:C
Gene:: VPS13A (Varview), VPS13A-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.77178407T>C, NC_000009.11:g.79793323T>C, NG_008931.1:g.5963T>C

Select item 147688305813.

rs1476883058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:77177535 (GRCh38)
9:79792451 (GRCh37)
Canonical SPDI:: NC_000009.12:77177534:C:T
Gene:: VPS13A (Varview), VPS13A-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.77177535C>T, NC_000009.11:g.79792451C>T, NG_008931.1:g.5091C>T, NM_015186.4:c.-170C>T, NM_015186.3:c.-170C>T, NM_033305.3:c.-170C>T, NM_033305.2:c.-170C>T, NM_001018038.3:c.-170C>T, NM_001018038.2:c.-170C>T, NM_001018037.2:c.-170C>T, NM_001018037.1:c.-170C>T, NG_074355.1:g.383C>T

Select item 147584244214.

rs1475842442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:77179583 (GRCh38)
9:79794499 (GRCh37)
Canonical SPDI:: NC_000009.12:77179582:T:C
Gene:: VPS13A (Varview), VPS13A-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.77179583T>C, NC_000009.11:g.79794499T>C, NG_008931.1:g.7139T>C

Select item 147519230815.

rs1475192308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:77176736 (GRCh38)
9:79791652 (GRCh37)
Canonical SPDI:: NC_000009.12:77176735:C:T
Gene:: VPS13A (Varview), VPS13A-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.77176736C>T, NC_000009.11:g.79791652C>T, NG_008931.1:g.4292C>T

Select item 147501370116.

rs1475013701 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:77178665 (GRCh38)
9:79793581 (GRCh37)
Canonical SPDI:: NC_000009.12:77178664:G:A
Gene:: VPS13A (Varview), VPS13A-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.77178665G>A, NC_000009.11:g.79793581G>A, NG_008931.1:g.6221G>A

Select item 147493853617.

rs1474938536 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:77179217 (GRCh38)
9:79794133 (GRCh37)
Canonical SPDI:: NC_000009.12:77179216:A:G
Gene:: VPS13A (Varview), VPS13A-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.77179217A>G, NC_000009.11:g.79794133A>G, NG_008931.1:g.6773A>G

Select item 147380855918.

rs1473808559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:77176504 (GRCh38)
9:79791420 (GRCh37)
Canonical SPDI:: NC_000009.12:77176503:T:C
Gene:: VPS13A (Varview), VPS13A-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.77176504T>C, NC_000009.11:g.79791420T>C, NG_008931.1:g.4060T>C

Select item 147372991919.

rs1473729919 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:77176884 (GRCh38)
9:79791800 (GRCh37)
Canonical SPDI:: NC_000009.12:77176883:T:C
Gene:: VPS13A (Varview), VPS13A-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.77176884T>C, NC_000009.11:g.79791800T>C, NG_008931.1:g.4440T>C, NR_026668.2:n.314A>G

Select item 147371525320.

rs1473715253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:77177400 (GRCh38)
9:79792316 (GRCh37)
Canonical SPDI:: NC_000009.12:77177399:G:C
Gene:: VPS13A (Varview), VPS13A-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.77177400G>C, NC_000009.11:g.79792316G>C, NG_008931.1:g.4956G>C, NG_074355.1:g.248G>C

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