SNP Links for Gene (Select 135458) - SNP

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Select item 14913273021.

rs1491327302 has merged into rs10657323 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 6:658673 (GRCh38)
6:658673 (GRCh37)
Canonical SPDI:: NC_000006.12:658665:TTTTTTTTTTTTTT:TTTTTTT,NC_000006.12:658665:TTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:658665:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:658665:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:658665:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:658665:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:658665:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:658665:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:658665:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:658665:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:658665:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: EXOC2 (Varview), HUS1B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.658673_658679del, NC_000006.12:g.658674_658679del, NC_000006.12:g.658675_658679del, NC_000006.12:g.658676_658679del, NC_000006.12:g.658677_658679del, NC_000006.12:g.658678_658679del, NC_000006.12:g.658679del, NC_000006.12:g.658679dup, NC_000006.12:g.658678_658679dup, NC_000006.12:g.658677_658679dup, NC_000006.12:g.658676_658679dup, NC_000006.11:g.658673_658679del, NC_000006.11:g.658674_658679del, NC_000006.11:g.658675_658679del, NC_000006.11:g.658676_658679del, NC_000006.11:g.658677_658679del, NC_000006.11:g.658678_658679del, NC_000006.11:g.658679del, NC_000006.11:g.658679dup, NC_000006.11:g.658678_658679dup, NC_000006.11:g.658677_658679dup, NC_000006.11:g.658676_658679dup, NG_047166.1:g.39470_39476del, NG_047166.1:g.39471_39476del, NG_047166.1:g.39472_39476del, NG_047166.1:g.39473_39476del, NG_047166.1:g.39474_39476del, NG_047166.1:g.39475_39476del, NG_047166.1:g.39476del, NG_047166.1:g.39476dup, NG_047166.1:g.39475_39476dup, NG_047166.1:g.39474_39476dup, NG_047166.1:g.39473_39476dup

Select item 14912693152.

rs1491269315 has merged into rs11319548 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:657778 (GRCh38)
6:657778 (GRCh37)
Canonical SPDI:: NC_000006.12:657764:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:657764:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:657764:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:657764:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:657764:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:657764:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:657764:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:657764:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:657764:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EXOC2 (Varview), HUS1B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3982/1994 (1000Genomes)
HGVS:: NC_000006.12:g.657778_657782del, NC_000006.12:g.657779_657782del, NC_000006.12:g.657780_657782del, NC_000006.12:g.657781_657782del, NC_000006.12:g.657782del, NC_000006.12:g.657782dup, NC_000006.12:g.657781_657782dup, NC_000006.12:g.657778_657782dup, NC_000006.12:g.657774_657782dup, NC_000006.11:g.657778_657782del, NC_000006.11:g.657779_657782del, NC_000006.11:g.657780_657782del, NC_000006.11:g.657781_657782del, NC_000006.11:g.657782del, NC_000006.11:g.657782dup, NC_000006.11:g.657781_657782dup, NC_000006.11:g.657778_657782dup, NC_000006.11:g.657774_657782dup, NG_047166.1:g.40373_40377del, NG_047166.1:g.40374_40377del, NG_047166.1:g.40375_40377del, NG_047166.1:g.40376_40377del, NG_047166.1:g.40377del, NG_047166.1:g.40377dup, NG_047166.1:g.40376_40377dup, NG_047166.1:g.40373_40377dup, NG_047166.1:g.40369_40377dup

Select item 14911891933.

rs1491189193 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:657764 (GRCh38)
6:657764 (GRCh37)
Canonical SPDI:: NC_000006.12:657763:CA:
Gene:: EXOC2 (Varview), HUS1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.657764_657765del, NC_000006.11:g.657764_657765del, NG_047166.1:g.40377_40378del

Select item 14911391144.

rs1491139114 has merged into rs376254927 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCC [Show Flanks]
Chromosome:: 6:657056 (GRCh38)
6:657056 (GRCh37)
Canonical SPDI:: NC_000006.12:657051:CCCCCC:CCCC,NC_000006.12:657051:CCCCCC:CCCCCCC
Gene:: EXOC2 (Varview), HUS1B (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
HGVS:: NC_000006.12:g.657056_657057del, NC_000006.12:g.657057dup, NC_000006.11:g.657056_657057del, NC_000006.11:g.657057dup, NG_047166.1:g.41089_41090del, NG_047166.1:g.41090dup, NM_148959.4:c.-109_-108del, NM_148959.4:c.-108dup

Select item 14893976685.

rs1489397668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:656361 (GRCh38)
6:656361 (GRCh37)
Canonical SPDI:: NC_000006.12:656360:G:A,NC_000006.12:656360:G:C
Gene:: EXOC2 (Varview), HUS1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000006.12:g.656361G>A, NC_000006.12:g.656361G>C, NC_000006.11:g.656361G>A, NC_000006.11:g.656361G>C, NG_047166.1:g.41781C>T, NG_047166.1:g.41781C>G, NM_148959.4:c.584C>T, NM_148959.4:c.584C>G, NM_148959.3:c.584C>T, NM_148959.3:c.584C>G, NP_683762.2:p.Thr195Met, NP_683762.2:p.Thr195Arg

Select item 14873436956.

rs1487343695 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:657261 (GRCh38)
6:657261 (GRCh37)
Canonical SPDI:: NC_000006.12:657260:T:C,NC_000006.12:657260:T:G
Gene:: EXOC2 (Varview), HUS1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.657261T>C, NC_000006.12:g.657261T>G, NC_000006.11:g.657261T>C, NC_000006.11:g.657261T>G, NG_047166.1:g.40881A>G, NG_047166.1:g.40881A>C

Select item 14869997387.

rs1486999738 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:655894 (GRCh38)
6:655894 (GRCh37)
Canonical SPDI:: NC_000006.12:655893:A:G
Gene:: EXOC2 (Varview), HUS1B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.655894A>G, NC_000006.11:g.655894A>G, NG_047166.1:g.42248T>C

Select item 14869079548.

rs1486907954 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:657124 (GRCh38)
6:657124 (GRCh37)
Canonical SPDI:: NC_000006.12:657123:C:A
Gene:: EXOC2 (Varview), HUS1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.657124C>A, NC_000006.11:g.657124C>A, NG_047166.1:g.41018G>T

Select item 14859227879.

rs1485922787 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATA>- [Show Flanks]
Chromosome:: 6:657665 (GRCh38)
6:657665 (GRCh37)
Canonical SPDI:: NC_000006.12:657660:AATAAATA:AATA
Gene:: EXOC2 (Varview), HUS1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATAAATA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.657661AATA[1], NC_000006.11:g.657661AATA[1], NG_047166.1:g.40474TATT[1]

Select item 148590232810.

rs1485902328 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTATATATATATATATAT>-,TTTATATATATATATATATTTTATATATATATATATAT [Show Flanks]
Chromosome:: 6:658644 (GRCh38)
6:658644 (GRCh37)
Canonical SPDI:: NC_000006.12:658629:ATATATATATATATTTTATATATATATATATAT:ATATATATATATAT,NC_000006.12:658629:ATATATATATATATTTTATATATATATATATAT:ATATATATATATATTTTATATATATATATATATTTTATATATATATATATAT
Gene:: EXOC2 (Varview), HUS1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATATATATATTTTATATATATATATATATTTTATATATATATATATAT=0./0 (ALFA)
ATATATATATATATTTTAT=0.000036/4 (GnomAD)
HGVS:: NC_000006.12:g.658644_658662del, NC_000006.12:g.658644_658662dup, NC_000006.11:g.658644_658662del, NC_000006.11:g.658644_658662dup, NG_047166.1:g.39494_39512del, NG_047166.1:g.39494_39512dup

Select item 148555567511.

rs1485555675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:658036 (GRCh38)
6:658036 (GRCh37)
Canonical SPDI:: NC_000006.12:658035:G:A
Gene:: EXOC2 (Varview), HUS1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (KOREAN)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000546/1 (Korea1K)
A=0.000885/15 (TOMMO)
HGVS:: NC_000006.12:g.658036G>A, NC_000006.11:g.658036G>A, NG_047166.1:g.40106C>T

Select item 148527722112.

rs1485277221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:657068 (GRCh38)
6:657068 (GRCh37)
Canonical SPDI:: NC_000006.12:657067:G:A
Gene:: EXOC2 (Varview), HUS1B (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=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.657068G>A, NC_000006.11:g.657068G>A, NG_047166.1:g.41074C>T, NM_148959.4:c.-124C>T

Select item 148440953213.

rs1484409532 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:656541 (GRCh38)
6:656541 (GRCh37)
Canonical SPDI:: NC_000006.12:656540:C:T
Gene:: EXOC2 (Varview), HUS1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000006.12:g.656541C>T, NC_000006.11:g.656541C>T, NG_047166.1:g.41601G>A, NM_148959.4:c.404G>A, NM_148959.3:c.404G>A, NP_683762.2:p.Arg135Gln

Select item 148433587414.

rs1484335874 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 6:658702 (GRCh38)
6:658702 (GRCh37)
Canonical SPDI:: NC_000006.12:658701:CCC:CC
Gene:: EXOC2 (Varview), HUS1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000009/1 (GnomAD)
HGVS:: NC_000006.12:g.658704del, NC_000006.11:g.658704del, NG_047166.1:g.39440del

Select item 148375365415.

rs1483753654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:655757 (GRCh38)
6:655757 (GRCh37)
Canonical SPDI:: NC_000006.12:655756:G:A,NC_000006.12:655756:G:C
Gene:: EXOC2 (Varview), HUS1B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.655757G>A, NC_000006.12:g.655757G>C, NC_000006.11:g.655757G>A, NC_000006.11:g.655757G>C, NG_047166.1:g.42385C>T, NG_047166.1:g.42385C>G

Select item 148370345816.

rs1483703458 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:656570 (GRCh38)
6:656570 (GRCh37)
Canonical SPDI:: NC_000006.12:656569:A:G
Gene:: EXOC2 (Varview), HUS1B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.656570A>G, NC_000006.11:g.656570A>G, NG_047166.1:g.41572T>C, NM_148959.4:c.375T>C, NM_148959.3:c.375T>C

Select item 148360082117.

rs1483600821 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:657135 (GRCh38)
6:657135 (GRCh37)
Canonical SPDI:: NC_000006.12:657134:G:A
Gene:: EXOC2 (Varview), HUS1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.657135G>A, NC_000006.11:g.657135G>A, NG_047166.1:g.41007C>T

Select item 148305195818.

rs1483051958 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:655847 (GRCh38)
6:655847 (GRCh37)
Canonical SPDI:: NC_000006.12:655846:C:A
Gene:: EXOC2 (Varview), HUS1B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.655847C>A, NC_000006.11:g.655847C>A, NG_047166.1:g.42295G>T

Select item 148275129019.

rs1482751290 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:656311 (GRCh38)
6:656311 (GRCh37)
Canonical SPDI:: NC_000006.12:656310:G:T
Gene:: EXOC2 (Varview), HUS1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.656311G>T, NC_000006.11:g.656311G>T, NG_047166.1:g.41831C>A, NM_148959.4:c.634C>A, NM_148959.3:c.634C>A, NP_683762.2:p.Gln212Lys

Select item 148204028020.

rs1482040280 [Homo sapiens]

Variant type:: DEL
Alleles:: CTCCACTAACC>- [Show Flanks]
Chromosome:: 6:658157 (GRCh38)
6:658157 (GRCh37)
Canonical SPDI:: NC_000006.12:658156:CTCCACTAACC:
Gene:: EXOC2 (Varview), HUS1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000242/34 (GnomAD)
HGVS:: NC_000006.12:g.658157_658167del, NC_000006.11:g.658157_658167del, NG_047166.1:g.39975_39985del

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