SNP Links for Gene (Select 8269) - SNP

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Select item 14903925811.

rs1490392581 [Homo sapiens]

Variant type:: DEL
Alleles:: AAA>- [Show Flanks]
Chromosome:: X:153977219 (GRCh38)
X:153242670 (GRCh37)
Canonical SPDI:: NC_000023.11:153977218:AAA:
Gene:: TMEM187 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.153977219_153977221del, NW_003871103.3:g.1411198_1411200del, NG_021222.1:g.9680_9682del, NC_000023.10:g.153242670_153242672del

Select item 14903618452.

rs1490361845 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:153975852 (GRCh38)
X:153241303 (GRCh37)
Canonical SPDI:: NC_000023.11:153975851:C:A
Gene:: TMEM187 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.02435/71 (KOREAN)
HGVS:: NC_000023.11:g.153975852C>A, NW_003871103.3:g.1409831C>A, NG_012513.2:g.966G>T, NG_012513.1:g.517G>T, NG_021222.1:g.8313C>A, NC_000023.10:g.153241303C>A

Select item 14902249523.

rs1490224952 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:153973785 (GRCh38)
X:153239236 (GRCh37)
Canonical SPDI:: NC_000023.11:153973784:T:C
Gene:: HCFC1 (Varview), TMEM187 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153973785T>C, NW_003871103.3:g.1407764T>C, NG_012513.2:g.3033A>G, NG_012513.1:g.2584A>G, NG_021222.1:g.6246T>C, NC_000023.10:g.153239236T>C

Select item 14901990624.

rs1490199062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:153975382 (GRCh38)
X:153240833 (GRCh37)
Canonical SPDI:: NC_000023.11:153975381:G:C
Gene:: TMEM187 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000038/10 (TOPMED)
C=0.000039/4 (GnomAD)
HGVS:: NC_000023.11:g.153975382G>C, NW_003871103.3:g.1409361G>C, NG_012513.2:g.1436C>G, NG_012513.1:g.987C>G, NG_021222.1:g.7843G>C, NC_000023.10:g.153240833G>C

Select item 14896648085.

rs1489664808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153978269 (GRCh38)
X:153243720 (GRCh37)
Canonical SPDI:: NC_000023.11:153978268:G:A
Gene:: TMEM187 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000024/2 (GnomAD)
HGVS:: NC_000023.11:g.153978269G>A, NW_003871103.3:g.1412248G>A, NG_021222.1:g.10730G>A, NC_000023.10:g.153243720G>A

Select item 14895739826.

rs1489573982 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153982138 (GRCh38)
X:153247589 (GRCh37)
Canonical SPDI:: NC_000023.11:153982137:G:A
Gene:: TMEM187 (Varview), MIR3202-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000009/1 (GnomAD)
HGVS:: NC_000023.11:g.153982138G>A, NW_003871103.3:g.1416117G>A, NG_021222.1:g.14599G>A, NM_003492.3:c.76G>A, NM_003492.2:c.76G>A, NC_000023.10:g.153247589G>A, NP_003483.1:p.Gly26Ser

Select item 14894208937.

rs1489420893 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGAGGAGGGAGAGGGAGGA>- [Show Flanks]
Chromosome:: X:153970581 (GRCh38)
X:153236032 (GRCh37)
Canonical SPDI:: NC_000023.11:153970571:GAGGGAGGAAAGAGGAGGGAGAGGGAGGA:GAGGGAGGA
Gene:: HCFC1 (Varview), HCFC1-AS1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGGAGGA=0./0 (ALFA)
-=0.00019/19 (GnomAD)
HGVS:: NC_000023.11:g.153970581_153970600del, NW_003871103.3:g.1404560_1404579del, NG_012513.2:g.6227_6246del, NG_012513.1:g.5778_5797del, NG_021222.1:g.3042_3061del, NC_000023.10:g.153236032_153236051del

Select item 14891491438.

rs1489149143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:153979643 (GRCh38)
X:153245094 (GRCh37)
Canonical SPDI:: NC_000023.11:153979642:C:A
Gene:: TMEM187 (Varview), MIR3202-1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.153979643C>A, NW_003871103.3:g.1413622C>A, NG_021222.1:g.12104C>A, NC_000023.10:g.153245094C>A

Select item 14885557969.

rs1488555796 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:153974480 (GRCh38)
X:153239931 (GRCh37)
Canonical SPDI:: NC_000023.11:153974479:C:A
Gene:: TMEM187 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.153974480C>A, NW_003871103.3:g.1408459C>A, NG_012513.2:g.2338G>T, NG_012513.1:g.1889G>T, NG_021222.1:g.6941C>A, NC_000023.10:g.153239931C>A

Select item 148845816110.

rs1488458161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153970540 (GRCh38)
X:153235991 (GRCh37)
Canonical SPDI:: NC_000023.11:153970539:G:A
Gene:: HCFC1 (Varview), HCFC1-AS1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000052/5 (GnomAD)
A=0.000087/23 (TOPMED)
HGVS:: NC_000023.11:g.153970540G>A, NW_003871103.3:g.1404519G>A, NG_012513.2:g.6278C>T, NG_012513.1:g.5829C>T, NG_021222.1:g.3001G>A, NC_000023.10:g.153235991G>A

Select item 148829030411.

rs1488290304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153976643 (GRCh38)
X:153242094 (GRCh37)
Canonical SPDI:: NC_000023.11:153976642:C:T
Gene:: TMEM187 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.153976643C>T, NW_003871103.3:g.1410622C>T, NG_012513.2:g.175G>A, NG_021222.1:g.9104C>T, NC_000023.10:g.153242094C>T

Select item 148770057512.

rs1487700575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153977369 (GRCh38)
X:153242820 (GRCh37)
Canonical SPDI:: NC_000023.11:153977368:C:T
Gene:: TMEM187 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000029/3 (GnomAD)
T=0.000083/22 (TOPMED)
HGVS:: NC_000023.11:g.153977369C>T, NW_003871103.3:g.1411348C>T, NG_021222.1:g.9830C>T, NC_000023.10:g.153242820C>T

Select item 148767400313.

rs1487674003 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:153977175 (GRCh38)
X:153242626 (GRCh37)
Canonical SPDI:: NC_000023.11:153977174:A:G
Gene:: TMEM187 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153977175A>G, NW_003871103.3:g.1411154A>G, NG_021222.1:g.9636A>G, NC_000023.10:g.153242626A>G

Select item 148760921514.

rs1487609215 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:153981178 (GRCh38)
X:153246629 (GRCh37)
Canonical SPDI:: NC_000023.11:153981177:T:C
Gene:: TMEM187 (Varview), MIR3202-2 (Varview), MIR3202-1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.153981178T>C, NW_003871103.3:g.1415157T>C, NG_021222.1:g.13639T>C, NC_000023.10:g.153246629T>C

Select item 148740574915.

rs1487405749 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:153977688 (GRCh38)
X:153243139 (GRCh37)
Canonical SPDI:: NC_000023.11:153977687:A:G
Gene:: TMEM187 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.153977688A>G, NW_003871103.3:g.1411667A>G, NG_021222.1:g.10149A>G, NC_000023.10:g.153243139A>G

Select item 148734466416.

rs1487344664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153976492 (GRCh38)
X:153241943 (GRCh37)
Canonical SPDI:: NC_000023.11:153976491:C:T
Gene:: TMEM187 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.153976492C>T, NW_003871103.3:g.1410471C>T, NG_012513.2:g.326G>A, NG_021222.1:g.8953C>T, NC_000023.10:g.153241943C>T

Select item 148683770217.

rs1486837702 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153971714 (GRCh38)
X:153237165 (GRCh37)
Canonical SPDI:: NC_000023.11:153971713:C:T
Gene:: HCFC1 (Varview), TMEM187 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000009/1 (GnomAD)
HGVS:: NC_000023.11:g.153971714C>T, NW_003871103.3:g.1405693C>T, NG_012513.2:g.5104G>A, NG_012513.1:g.4655G>A, NM_005334.3:c.-874G>A, NM_001410705.1:c.-874G>A, NG_021222.1:g.4175C>T, NC_000023.10:g.153237165C>T, XM_006724815.4:c.-874G>A, XM_006724816.4:c.-874G>A, XM_006724816.3:c.-874G>A, XM_006724816.2:c.-874G>A, XM_006724816.1:c.-874G>A, XM_011531147.4:c.-874G>A, XM_011531147.3:c.-874G>A, XM_011531147.2:c.-874G>A, XM_011531147.1:c.-874G>A, XM_011531148.4:c.-874G>A, XM_011531148.3:c.-874G>A, XM_011531148.2:c.-874G>A, XM_011531148.1:c.-874G>A, XM_017029471.3:c.-874G>A, XM_017029471.2:c.-874G>A, XM_017029471.1:c.-874G>A, XM_047442051.1:c.-874G>A, XM_047442053.1:c.-874G>A, XM_047442052.1:c.-874G>A, XM_047442054.1:c.-874G>A, XM_047442055.1:c.-874G>A, XM_047442056.1:c.-874G>A, XM_047442057.1:c.-874G>A, XM_047442058.1:c.-874G>A, XM_047442059.1:c.-874G>A, XM_047442060.1:c.-874G>A

Select item 148673424718.

rs1486734247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: X:153972276 (GRCh38)
X:153237727 (GRCh37)
Canonical SPDI:: NC_000023.11:153972275:C:A,NC_000023.11:153972275:C:G
Gene:: HCFC1 (Varview), TMEM187 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153972276C>A, NC_000023.11:g.153972276C>G, NW_003871103.3:g.1406255C>A, NW_003871103.3:g.1406255C>G, NG_012513.2:g.4542G>T, NG_012513.2:g.4542G>C, NG_012513.1:g.4093G>T, NG_012513.1:g.4093G>C, NG_021222.1:g.4737C>A, NG_021222.1:g.4737C>G, NC_000023.10:g.153237727C>A, NC_000023.10:g.153237727C>G

Select item 148642315919.

rs1486423159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:153979856 (GRCh38)
X:153245307 (GRCh37)
Canonical SPDI:: NC_000023.11:153979855:C:G
Gene:: TMEM187 (Varview), MIR3202-1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.153979856C>G, NW_003871103.3:g.1413835C>G, NG_021222.1:g.12317C>G, NC_000023.10:g.153245307C>G

Select item 148640057320.

rs1486400573 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:153978986 (GRCh38)
X:153244437 (GRCh37)
Canonical SPDI:: NC_000023.11:153978985:C:G
Gene:: TMEM187 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153978986C>G, NW_003871103.3:g.1412965C>G, NG_021222.1:g.11447C>G, NC_000023.10:g.153244437C>G

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