SNP Links for Gene (Select 391004) - SNP

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Select item 14909234421.

rs1490923442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:13388936 (GRCh38)
1:13715396 (GRCh37)
Canonical SPDI:: NC_000001.11:13388935:T:C,NC_000001.11:13388935:T:G
Gene:: PRAMEF17 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.13388936T>C, NC_000001.11:g.13388936T>G, NC_000001.10:g.13715396T>C, NC_000001.10:g.13715396T>G

Select item 14904927852.

rs1490492785 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:13388532 (GRCh38)
1:13714992 (GRCh37)
Canonical SPDI:: NC_000001.11:13388531:A:T
Gene:: PRAMEF17 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.13388532A>T, NC_000001.10:g.13714992A>T

Select item 14904072593.

rs1490407259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:13390005 (GRCh38)
1:13716465 (GRCh37)
Canonical SPDI:: NC_000001.11:13390004:C:T
Gene:: PRAMEF17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.13390005C>T, NC_000001.10:g.13716465C>T

Select item 14891235814.

rs1489123581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:13389925 (GRCh38)
1:13716385 (GRCh37)
Canonical SPDI:: NC_000001.11:13389924:G:A
Gene:: PRAMEF17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.13389925G>A, NC_000001.10:g.13716385G>A, NM_001099851.3:c.268G>A, NM_001099851.2:c.268G>A, NM_001099851.1:c.268G>A, NM_001045480.1:c.268G>A, NP_001093321.1:p.Ala90Thr

Select item 14889793565.

rs1488979356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:13391520 (GRCh38)
1:13717980 (GRCh37)
Canonical SPDI:: NC_000001.11:13391519:G:A,NC_000001.11:13391519:G:T
Gene:: PRAMEF17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.02791/340 (ALFA)
G=0./0 (SGDP_PRJ)
A=0.011884/27 (KOREAN)
A=0.079274/20983 (TOPMED)
A=0.085415/547 (1000Genomes)
A=0.136811/1646 (TOMMO)
A=0.187773/344 (Korea1K)
HGVS:: NC_000001.11:g.13391520G>A, NC_000001.11:g.13391520G>T, NC_000001.10:g.13717980G>A, NC_000001.10:g.13717980G>T

Select item 14888183306.

rs1488818330 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:13389951 (GRCh38)
1:13716411 (GRCh37)
Canonical SPDI:: NC_000001.11:13389950:T:A
Gene:: PRAMEF17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
A=0.000156/1 (1000Genomes)
A=0.000347/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.13389951T>A, NC_000001.10:g.13716411T>A

Select item 14888173587.

rs1488817358 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:13387706 (GRCh38)
1:13714166 (GRCh37)
Canonical SPDI:: NC_000001.11:13387705:A:T
Gene:: PRAMEF17 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.13387706A>T, NC_000001.10:g.13714166A>T

Select item 14886266258.

rs1488626625 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:13390727 (GRCh38)
1:13717187 (GRCh37)
Canonical SPDI:: NC_000001.11:13390726:CCCC:CCC
Gene:: PRAMEF17 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.13390730del, NC_000001.10:g.13717190del, NM_001099851.3:c.677del, NM_001099851.2:c.677del, NM_001099851.1:c.677del, NM_001045480.1:c.677del, NP_001093321.1:p.Pro226fs

Select item 14886142309.

rs1488614230 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:13388443 (GRCh38)
1:13714903 (GRCh37)
Canonical SPDI:: NC_000001.11:13388442:A:G,NC_000001.11:13388442:A:T
Gene:: PRAMEF17 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000468/3 (1000Genomes)
T=0.001191/167 (GnomAD)
HGVS:: NC_000001.11:g.13388443A>G, NC_000001.11:g.13388443A>T, NC_000001.10:g.13714903A>G, NC_000001.10:g.13714903A>T

Select item 148817606110.

rs1488176061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:13391019 (GRCh38)
1:13717479 (GRCh37)
Canonical SPDI:: NC_000001.11:13391018:G:T
Gene:: PRAMEF17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000038/10 (TOPMED)
HGVS:: NC_000001.11:g.13391019G>T, NC_000001.10:g.13717479G>T

Select item 148814067711.

rs1488140677 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:13390211 (GRCh38)
1:13716671 (GRCh37)
Canonical SPDI:: NC_000001.11:13390210:T:G
Gene:: PRAMEF17 (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_000001.11:g.13390211T>G, NC_000001.10:g.13716671T>G

Select item 148763195112.

rs1487631951 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:13390638 (GRCh38)
1:13717098 (GRCh37)
Canonical SPDI:: NC_000001.11:13390637:C:T
Gene:: PRAMEF17 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.13390638C>T, NC_000001.10:g.13717098C>T, NM_001099851.3:c.585C>T, NM_001099851.2:c.585C>T, NM_001099851.1:c.585C>T, NM_001045480.1:c.585C>T

Select item 148718744413.

rs1487187444 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:13391380 (GRCh38)
1:13717840 (GRCh37)
Canonical SPDI:: NC_000001.11:13391379:GG:G
Gene:: PRAMEF17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.13391381del, NC_000001.10:g.13717841del

Select item 148700420914.

rs1487004209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:13392041 (GRCh38)
1:13718501 (GRCh37)
Canonical SPDI:: NC_000001.11:13392040:C:T
Gene:: PRAMEF17 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.13392041C>T, NC_000001.10:g.13718501C>T, NM_001099851.3:c.964C>T, NM_001099851.2:c.964C>T, NM_001099851.1:c.964C>T, NM_001045480.1:c.964C>T

Select item 148685458715.

rs1486854587 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:13388464 (GRCh38)
1:13714924 (GRCh37)
Canonical SPDI:: NC_000001.11:13388463:T:G
Gene:: PRAMEF17 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.13388464T>G, NC_000001.10:g.13714924T>G

Select item 148668234216.

rs1486682342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:13391458 (GRCh38)
1:13717918 (GRCh37)
Canonical SPDI:: NC_000001.11:13391457:G:A
Gene:: PRAMEF17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.13391458G>A, NC_000001.10:g.13717918G>A

Select item 148523914217.

rs1485239142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:13392034 (GRCh38)
1:13718494 (GRCh37)
Canonical SPDI:: NC_000001.11:13392033:C:G
Gene:: PRAMEF17 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.13392034C>G, NC_000001.10:g.13718494C>G, NM_001099851.3:c.957C>G, NM_001099851.2:c.957C>G, NM_001099851.1:c.957C>G, NM_001045480.1:c.957C>G

Select item 148484712618.

rs1484847126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:13389907 (GRCh38)
1:13716367 (GRCh37)
Canonical SPDI:: NC_000001.11:13389906:G:T
Gene:: PRAMEF17 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.13389907G>T, NC_000001.10:g.13716367G>T, NM_001099851.3:c.250G>T, NM_001099851.2:c.250G>T, NM_001099851.1:c.250G>T, NM_001045480.1:c.250G>T, NP_001093321.1:p.Gly84Ter

Select item 148441446719.

rs1484414467 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:13391919 (GRCh38)
1:13718379 (GRCh37)
Canonical SPDI:: NC_000001.11:13391918:A:G
Gene:: PRAMEF17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.13391919A>G, NC_000001.10:g.13718379A>G

Select item 148419770420.

rs1484197704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:13390344 (GRCh38)
1:13716804 (GRCh37)
Canonical SPDI:: NC_000001.11:13390343:G:A
Gene:: PRAMEF17 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.13390344G>A, NC_000001.10:g.13716804G>A, NM_001099851.3:c.291G>A, NM_001099851.2:c.291G>A, NM_001099851.1:c.291G>A, NM_001045480.1:c.291G>A

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