SNP Links for Gene (Select 105376323) - SNP

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Select item 14909491031.

rs1490949103 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136111416 (GRCh38)
9:139003262 (GRCh37)
Canonical SPDI:: NC_000009.12:136111415:T:C
Gene:: TMEM250 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136111416T>C, NC_000009.11:g.139003262T>C

Select item 14908552222.

rs1490855222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:136108336 (GRCh38)
9:139000182 (GRCh37)
Canonical SPDI:: NC_000009.12:136108335:C:G
Gene:: TMEM250 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136108336C>G, NC_000009.11:g.139000182C>G, XR_007061370.1:n.2603G>C

Select item 14897981113.

rs1489798111 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 9:136109993 (GRCh38)
9:139001839 (GRCh37)
Canonical SPDI:: NC_000009.12:136109990:GTGT:GT
Gene:: TMEM250 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136109991GT[1], NC_000009.11:g.139001837GT[1]

Select item 14897939444.

rs1489793944 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:136108704 (GRCh38)
9:139000550 (GRCh37)
Canonical SPDI:: NC_000009.12:136108703:A:G
Gene:: TMEM250 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.136108704A>G, NC_000009.11:g.139000550A>G, XR_007061370.1:n.2235T>C

Select item 14896706575.

rs1489670657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136109766 (GRCh38)
9:139001612 (GRCh37)
Canonical SPDI:: NC_000009.12:136109765:G:A
Gene:: TMEM250 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000106/2 (TOMMO)
HGVS:: NC_000009.12:g.136109766G>A, NC_000009.11:g.139001612G>A

Select item 14896280776.

rs1489628077 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 9:136107655 (GRCh38)
9:138999501 (GRCh37)
Canonical SPDI:: NC_000009.12:136107654:CCCC:CCC
Gene:: TMEM250 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136107658del, NC_000009.11:g.138999504del

Select item 14863513447.

rs1486351344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:136108254 (GRCh38)
9:139000100 (GRCh37)
Canonical SPDI:: NC_000009.12:136108253:C:G,NC_000009.12:136108253:C:T
Gene:: TMEM250 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136108254C>G, NC_000009.12:g.136108254C>T, NC_000009.11:g.139000100C>G, NC_000009.11:g.139000100C>T, XR_007061370.1:n.2685G>C, XR_007061370.1:n.2685G>A

Select item 14862177008.

rs1486217700 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136109090 (GRCh38)
9:139000936 (GRCh37)
Canonical SPDI:: NC_000009.12:136109089:T:C
Gene:: TMEM250 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136109090T>C, NC_000009.11:g.139000936T>C

Select item 14859653379.

rs1485965337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136111075 (GRCh38)
9:139002921 (GRCh37)
Canonical SPDI:: NC_000009.12:136111074:G:A
Gene:: TMEM250 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
HGVS:: NC_000009.12:g.136111075G>A, NC_000009.11:g.139002921G>A

Select item 148570257610.

rs1485702576 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 9:136108524 (GRCh38)
9:139000370 (GRCh37)
Canonical SPDI:: NC_000009.12:136108523:TT:T
Gene:: TMEM250 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136108525del, NC_000009.11:g.139000371del, XR_007061370.1:n.2415del

Select item 148560288911.

rs1485602889 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:136107601 (GRCh38)
9:138999447 (GRCh37)
Canonical SPDI:: NC_000009.12:136107600:A:C
Gene:: TMEM250 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000009.12:g.136107601A>C, NC_000009.11:g.138999447A>C

Select item 148552943012.

rs1485529430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:136109012 (GRCh38)
9:139000858 (GRCh37)
Canonical SPDI:: NC_000009.12:136109011:G:A,NC_000009.12:136109011:G:T
Gene:: TMEM250 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000026/7 (TOPMED)
HGVS:: NC_000009.12:g.136109012G>A, NC_000009.12:g.136109012G>T, NC_000009.11:g.139000858G>A, NC_000009.11:g.139000858G>T

Select item 148410555413.

rs1484105554 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:136108121 (GRCh38)
9:138999967 (GRCh37)
Canonical SPDI:: NC_000009.12:136108120:G:A,NC_000009.12:136108120:G:C
Gene:: TMEM250 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.136108121G>A, NC_000009.12:g.136108121G>C, NC_000009.11:g.138999967G>A, NC_000009.11:g.138999967G>C, XR_007061370.1:n.2818C>T, XR_007061370.1:n.2818C>G

Select item 148395359214.

rs1483953592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:136107453 (GRCh38)
9:138999299 (GRCh37)
Canonical SPDI:: NC_000009.12:136107452:C:A,NC_000009.12:136107452:C:T
Gene:: TMEM250 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
A=0.000564/1 (Korea1K)
HGVS:: NC_000009.12:g.136107453C>A, NC_000009.12:g.136107453C>T, NC_000009.11:g.138999299C>A, NC_000009.11:g.138999299C>T

Select item 148377212915.

rs1483772129 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136107801 (GRCh38)
9:138999647 (GRCh37)
Canonical SPDI:: NC_000009.12:136107800:G:A
Gene:: TMEM250 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.136107801G>A, NC_000009.11:g.138999647G>A, XR_007061370.1:n.3138C>T

Select item 148357113716.

rs1483571137 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136110085 (GRCh38)
9:139001931 (GRCh37)
Canonical SPDI:: NC_000009.12:136110084:C:T
Gene:: TMEM250 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000009.12:g.136110085C>T, NC_000009.11:g.139001931C>T

Select item 148286357817.

rs1482863578 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:136111006 (GRCh38)
9:139002853 (GRCh37)
Canonical SPDI:: NC_000009.12:136111006::G
Gene:: TMEM250 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136111006_136111007insG, NC_000009.11:g.139002852_139002853insG

Select item 148267214818.

rs1482672148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:136110362 (GRCh38)
9:139002208 (GRCh37)
Canonical SPDI:: NC_000009.12:136110361:C:A
Gene:: TMEM250 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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.136110362C>A, NC_000009.11:g.139002208C>A

Select item 148243097119.

rs1482430971 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:136108072 (GRCh38)
9:138999918 (GRCh37)
Canonical SPDI:: NC_000009.12:136108071:G:A,NC_000009.12:136108071:G:C
Gene:: TMEM250 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000009.12:g.136108072G>A, NC_000009.12:g.136108072G>C, NC_000009.11:g.138999918G>A, NC_000009.11:g.138999918G>C, XR_007061370.1:n.2867C>T, XR_007061370.1:n.2867C>G

Select item 148211750020.

rs1482117500 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136108470 (GRCh38)
9:139000316 (GRCh37)
Canonical SPDI:: NC_000009.12:136108469:C:T
Gene:: TMEM250 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_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.136108470C>T, NC_000009.11:g.139000316C>T, XR_007061370.1:n.2469G>A

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