SNP Links for Gene (Select 285016) - SNP

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Items: 1 to 20 of 3155

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Select item 14915174231.

rs1491517423 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:281022 (GRCh38)
2:281023 (GRCh37)
Canonical SPDI:: NC_000002.12:281022:A:AA
Gene:: ALKAL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.281023dup, NC_000002.11:g.281023dup

Select item 14912662532.

rs1491266253 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:279671 (GRCh38)
2:279672 (GRCh37)
Canonical SPDI:: NC_000002.12:279671:A:AA
Gene:: ALKAL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.279672dup, NC_000002.11:g.279672dup, NG_012035.1:g.19804dup, NM_001002919.3:c.*475dup, NM_001002919.2:c.*475dup, XM_047443980.1:c.*475dup, XM_047443981.1:c.*475dup, XM_047443982.1:c.*475dup

Select item 14908810243.

rs1490881024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:289436 (GRCh38)
2:289436 (GRCh37)
Canonical SPDI:: NC_000002.12:289435:C:T
Gene:: ALKAL2 (Varview), LOC101927262 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.289436C>T, NC_000002.11:g.289436C>T, XR_007085903.1:n.376C>T, XR_007085926.1:n.376C>T

Select item 14908449114.

rs1490844911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:288822 (GRCh38)
2:288822 (GRCh37)
Canonical SPDI:: NC_000002.12:288821:C:T
Gene:: ALKAL2 (Varview), LOC101927262 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.288822C>T, NC_000002.11:g.288822C>T

Select item 14908396385.

rs1490839638 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:283724 (GRCh38)
2:283724 (GRCh37)
Canonical SPDI:: NC_000002.12:283723:A:G
Gene:: ALKAL2 (Varview)
Functional Consequence:: intron_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.283724A>G, NC_000002.11:g.283724A>G

Select item 14907390926.

rs1490739092 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:279689 (GRCh38)
2:279689 (GRCh37)
Canonical SPDI:: NC_000002.12:279688:T:G
Gene:: ALKAL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.279689T>G, NC_000002.11:g.279689T>G, NG_012035.1:g.19821T>G, NM_001002919.3:c.*458A>C, NM_001002919.2:c.*458A>C, XM_047443980.1:c.*458A>C, XM_047443981.1:c.*458A>C, XM_047443982.1:c.*458A>C

Select item 14906752057.

rs1490675205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:283304 (GRCh38)
2:283304 (GRCh37)
Canonical SPDI:: NC_000002.12:283303:G:C
Gene:: ALKAL2 (Varview)
Functional Consequence:: 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_000002.12:g.283304G>C, NC_000002.11:g.283304G>C

Select item 14901106548.

rs1490110654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:283017 (GRCh38)
2:283017 (GRCh37)
Canonical SPDI:: NC_000002.12:283016:G:T
Gene:: ALKAL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.283017G>T, NC_000002.11:g.283017G>T

Select item 14899289059.

rs1489928905 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:288376 (GRCh38)
2:288376 (GRCh37)
Canonical SPDI:: NC_000002.12:288375:T:C,NC_000002.12:288375:T:G
Gene:: ALKAL2 (Varview), LOC101927262 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.288376T>C, NC_000002.12:g.288376T>G, NC_000002.11:g.288376T>C, NC_000002.11:g.288376T>G

Select item 148986313510.

rs1489863135 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGCCCGGCGG>- [Show Flanks]
Chromosome:: 2:288332 (GRCh38)
2:288332 (GRCh37)
Canonical SPDI:: NC_000002.12:288330:GGGCCCGGCGG:G
Gene:: ALKAL2 (Varview), LOC101927262 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.288332_288341del, NC_000002.11:g.288332_288341del

Select item 148983617211.

rs1489836172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:282019 (GRCh38)
2:282019 (GRCh37)
Canonical SPDI:: NC_000002.12:282018:A:C
Gene:: ALKAL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.282019A>C, NC_000002.11:g.282019A>C

Select item 148974849712.

rs1489748497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:281182 (GRCh38)
2:281182 (GRCh37)
Canonical SPDI:: NC_000002.12:281181:T:A,NC_000002.12:281181:T:C
Gene:: ALKAL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.281182T>A, NC_000002.12:g.281182T>C, NC_000002.11:g.281182T>A, NC_000002.11:g.281182T>C

Select item 148955078713.

rs1489550787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:281585 (GRCh38)
2:281585 (GRCh37)
Canonical SPDI:: NC_000002.12:281584:C:T
Gene:: ALKAL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.281585C>T, NC_000002.11:g.281585C>T

Select item 148950509514.

rs1489505095 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:286676 (GRCh38)
2:286676 (GRCh37)
Canonical SPDI:: NC_000002.12:286675:G:A
Gene:: ALKAL2 (Varview), LOC101927262 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.286676G>A, NC_000002.11:g.286676G>A

Select item 148928571015.

rs1489285710 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:280772 (GRCh38)
2:280772 (GRCh37)
Canonical SPDI:: NC_000002.12:280771:A:C,NC_000002.12:280771:A:G
Gene:: ALKAL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.280772A>C, NC_000002.12:g.280772A>G, NC_000002.11:g.280772A>C, NC_000002.11:g.280772A>G

Select item 148886408416.

rs1488864084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:281502 (GRCh38)
2:281502 (GRCh37)
Canonical SPDI:: NC_000002.12:281501:C:T
Gene:: ALKAL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.281502C>T, NC_000002.11:g.281502C>T

Select item 148871745617.

rs1488717456 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:288321 (GRCh38)
2:288321 (GRCh37)
Canonical SPDI:: NC_000002.12:288320:G:A,NC_000002.12:288320:G:C
Gene:: ALKAL2 (Varview), LOC101927262 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.288321G>A, NC_000002.12:g.288321G>C, NC_000002.11:g.288321G>A, NC_000002.11:g.288321G>C

Select item 148864643918.

rs1488646439 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:287867 (GRCh38)
2:287867 (GRCh37)
Canonical SPDI:: NC_000002.12:287866:C:A,NC_000002.12:287866:C:T
Gene:: ALKAL2 (Varview), LOC101927262 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.287867C>A, NC_000002.12:g.287867C>T, NC_000002.11:g.287867C>A, NC_000002.11:g.287867C>T, NM_001002919.3:c.-32G>T, NM_001002919.3:c.-32G>A, NM_001002919.2:c.-32G>T, NM_001002919.2:c.-32G>A, XM_047443980.1:c.-32G>T, XM_047443980.1:c.-32G>A, XM_047443981.1:c.-32G>T, XM_047443981.1:c.-32G>A, XM_047443982.1:c.-32G>T, XM_047443982.1:c.-32G>A

Select item 148860795219.

rs1488607952 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 2:285285 (GRCh38)
2:285285 (GRCh37)
Canonical SPDI:: NC_000002.12:285284:A:
Gene:: ALKAL2 (Varview), LOC101927262 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.285285del, NC_000002.11:g.285285del, NG_082417.1:g.720del

Select item 148857673020.

rs1488576730 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:284273 (GRCh38)
2:284273 (GRCh37)
Canonical SPDI:: NC_000002.12:284272:T:C,NC_000002.12:284272:T:G
Gene:: ALKAL2 (Varview), LOC101927262 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.284273T>C, NC_000002.12:g.284273T>G, NC_000002.11:g.284273T>C, NC_000002.11:g.284273T>G

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