SNP Links for Gene (Select 2488) - SNP

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Select item 14908709871.

rs1490870987 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:30230368 (GRCh38)
11:30251915 (GRCh37)
Canonical SPDI:: NC_000011.10:30230367:G:A,NC_000011.10:30230367:G:C
Gene:: FSHB (Varview), ARL14EP-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.30230368G>A, NC_000011.10:g.30230368G>C, NC_000011.9:g.30251915G>A, NC_000011.9:g.30251915G>C, NG_008144.1:g.4353G>A, NG_008144.1:g.4353G>C

Select item 14905439202.

rs1490543920 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:30233633 (GRCh38)
11:30255180 (GRCh37)
Canonical SPDI:: NC_000011.10:30233632:G:C
Gene:: FSHB (Varview), ARL14EP-DT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.30233633G>C, NC_000011.9:g.30255180G>C, NG_008144.1:g.7618G>C, NM_000510.4:c.223G>C, NM_000510.3:c.223G>C, NM_000510.2:c.223G>C, NM_001018080.3:c.223G>C, NM_001018080.2:c.223G>C, NM_001018080.1:c.223G>C, NM_001382289.1:c.223G>C, NP_000501.1:p.Val75Leu, NP_001018090.1:p.Val75Leu, NP_001369218.1:p.Val75Leu

Select item 14900532523.

rs1490053252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:30229813 (GRCh38)
11:30251360 (GRCh37)
Canonical SPDI:: NC_000011.10:30229812:G:A
Gene:: FSHB (Varview), ARL14EP-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.30229813G>A, NC_000011.9:g.30251360G>A, NG_008144.1:g.3798G>A

Select item 14895919564.

rs1489591956 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:30233375 (GRCh38)
11:30254922 (GRCh37)
Canonical SPDI:: NC_000011.10:30233374:A:G
Gene:: FSHB (Varview), ARL14EP-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.30233375A>G, NC_000011.9:g.30254922A>G, NG_008144.1:g.7360A>G

Select item 14893356315.

rs1489335631 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:30233826 (GRCh38)
11:30255373 (GRCh37)
Canonical SPDI:: NC_000011.10:30233825:T:C
Gene:: FSHB (Varview), ARL14EP-DT (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
HGVS:: NC_000011.10:g.30233826T>C, NC_000011.9:g.30255373T>C, NG_008144.1:g.7811T>C, NM_000510.4:c.*26T>C, NM_000510.3:c.*26T>C, NM_000510.2:c.*26T>C, NM_001018080.3:c.*26T>C, NM_001018080.2:c.*26T>C, NM_001018080.1:c.*26T>C, NM_001382289.1:c.*26T>C

Select item 14893009806.

rs1489300980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:30233881 (GRCh38)
11:30255428 (GRCh37)
Canonical SPDI:: NC_000011.10:30233880:C:A
Gene:: FSHB (Varview), ARL14EP-DT (Varview)
Functional Consequence:: 3_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_000011.10:g.30233881C>A, NC_000011.9:g.30255428C>A, NG_008144.1:g.7866C>A, NM_000510.4:c.*81C>A, NM_000510.3:c.*81C>A, NM_000510.2:c.*81C>A, NM_001018080.3:c.*81C>A, NM_001018080.2:c.*81C>A, NM_001018080.1:c.*81C>A, NM_001382289.1:c.*81C>A

Select item 14889371637.

rs1488937163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:30234412 (GRCh38)
11:30255959 (GRCh37)
Canonical SPDI:: NC_000011.10:30234411:C:T
Gene:: FSHB (Varview), ARL14EP-DT (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.30234412C>T, NC_000011.9:g.30255959C>T, NG_008144.1:g.8397C>T, NM_000510.4:c.*612C>T, NM_000510.3:c.*612C>T, NM_000510.2:c.*612C>T, NM_001018080.3:c.*612C>T, NM_001018080.2:c.*612C>T, NM_001018080.1:c.*612C>T, NM_001382289.1:c.*612C>T

Select item 14886676398.

rs1488667639 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:30229784 (GRCh38)
11:30251331 (GRCh37)
Canonical SPDI:: NC_000011.10:30229783:G:A
Gene:: FSHB (Varview), ARL14EP-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.30229784G>A, NC_000011.9:g.30251331G>A, NG_008144.1:g.3769G>A

Select item 14878147139.

rs1487814713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:30232203 (GRCh38)
11:30253750 (GRCh37)
Canonical SPDI:: NC_000011.10:30232202:G:A
Gene:: FSHB (Varview), ARL14EP-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.30232203G>A, NC_000011.9:g.30253750G>A, NG_008144.1:g.6188G>A

Select item 148761355910.

rs1487613559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:30233521 (GRCh38)
11:30255068 (GRCh37)
Canonical SPDI:: NC_000011.10:30233520:T:C
Gene:: FSHB (Varview), ARL14EP-DT (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_000011.10:g.30233521T>C, NC_000011.9:g.30255068T>C, NG_008144.1:g.7506T>C

Select item 148736516611.

rs1487365166 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:30231484 (GRCh38)
11:30253031 (GRCh37)
Canonical SPDI:: NC_000011.10:30231483:A:C
Gene:: FSHB (Varview), ARL14EP-DT (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_000011.10:g.30231484A>C, NC_000011.9:g.30253031A>C, NG_008144.1:g.5469A>C

Select item 148671915612.

rs1486719156 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:30230904 (GRCh38)
11:30252451 (GRCh37)
Canonical SPDI:: NC_000011.10:30230903:C:T
Gene:: FSHB (Varview), ARL14EP-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.30230904C>T, NC_000011.9:g.30252451C>T, NG_008144.1:g.4889C>T

Select item 148622635913.

rs1486226359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:30230525 (GRCh38)
11:30252072 (GRCh37)
Canonical SPDI:: NC_000011.10:30230524:G:A
Gene:: FSHB (Varview), ARL14EP-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.30230525G>A, NC_000011.9:g.30252072G>A, NG_008144.1:g.4510G>A

Select item 148579227114.

rs1485792271 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:30230795 (GRCh38)
11:30252342 (GRCh37)
Canonical SPDI:: NC_000011.10:30230794:A:G
Gene:: FSHB (Varview), ARL14EP-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000053/14 (TOPMED)
G=0.000312/2 (1000Genomes)
G=0.000684/2 (KOREAN)
G=0.000849/14 (TOMMO)
HGVS:: NC_000011.10:g.30230795A>G, NC_000011.9:g.30252342A>G, NG_008144.1:g.4780A>G

Select item 148528471215.

rs1485284712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:30234901 (GRCh38)
11:30256448 (GRCh37)
Canonical SPDI:: NC_000011.10:30234900:G:A
Gene:: FSHB (Varview), ARL14EP-DT (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000019/5 (TOPMED)
A=0.000106/2 (TOMMO)
A=0.000684/2 (KOREAN)
HGVS:: NC_000011.10:g.30234901G>A, NC_000011.9:g.30256448G>A, NG_008144.1:g.8886G>A, NM_000510.4:c.*1101G>A, NM_000510.3:c.*1101G>A, NM_000510.2:c.*1101G>A, NM_001018080.3:c.*1101G>A, NM_001018080.2:c.*1101G>A, NM_001018080.1:c.*1101G>A, NM_001382289.1:c.*1101G>A

Select item 148436566316.

rs1484365663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:30234301 (GRCh38)
11:30255848 (GRCh37)
Canonical SPDI:: NC_000011.10:30234300:G:C
Gene:: FSHB (Varview), ARL14EP-DT (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.30234301G>C, NC_000011.9:g.30255848G>C, NG_008144.1:g.8286G>C, NM_000510.4:c.*501G>C, NM_000510.3:c.*501G>C, NM_000510.2:c.*501G>C, NM_001018080.3:c.*501G>C, NM_001018080.2:c.*501G>C, NM_001018080.1:c.*501G>C, NM_001382289.1:c.*501G>C

Select item 148426981917.

rs1484269819 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:30232559 (GRCh38)
11:30254106 (GRCh37)
Canonical SPDI:: NC_000011.10:30232558:A:G
Gene:: FSHB (Varview), ARL14EP-DT (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_000011.10:g.30232559A>G, NC_000011.9:g.30254106A>G, NG_008144.1:g.6544A>G

Select item 148307125818.

rs1483071258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:30231371 (GRCh38)
11:30252918 (GRCh37)
Canonical SPDI:: NC_000011.10:30231370:G:T
Gene:: FSHB (Varview), ARL14EP-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.30231371G>T, NC_000011.9:g.30252918G>T, NG_008144.1:g.5356G>T

Select item 148058676619.

rs1480586766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:30230992 (GRCh38)
11:30252539 (GRCh37)
Canonical SPDI:: NC_000011.10:30230991:G:A
Gene:: FSHB (Varview), ARL14EP-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.30230992G>A, NC_000011.9:g.30252539G>A, NG_008144.1:g.4977G>A

Select item 147935687920.

rs1479356879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:30229926 (GRCh38)
11:30251473 (GRCh37)
Canonical SPDI:: NC_000011.10:30229925:C:T
Gene:: FSHB (Varview), ARL14EP-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.30229926C>T, NC_000011.9:g.30251473C>T, NG_008144.1:g.3911C>T

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