SNP Links for Gene (Select 23787) - SNP

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Select item 14915694181.

rs1491569418 has merged into rs11322816 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:36978885 (GRCh38)
6:36946661 (GRCh37)
Canonical SPDI:: NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:36978875:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MTCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.36978885_36978898del, NC_000006.12:g.36978886_36978898del, NC_000006.12:g.36978887_36978898del, NC_000006.12:g.36978888_36978898del, NC_000006.12:g.36978889_36978898del, NC_000006.12:g.36978890_36978898del, NC_000006.12:g.36978891_36978898del, NC_000006.12:g.36978892_36978898del, NC_000006.12:g.36978893_36978898del, NC_000006.12:g.36978894_36978898del, NC_000006.12:g.36978895_36978898del, NC_000006.12:g.36978896_36978898del, NC_000006.12:g.36978897_36978898del, NC_000006.12:g.36978898del, NC_000006.12:g.36978898dup, NC_000006.12:g.36978897_36978898dup, NC_000006.12:g.36978896_36978898dup, NC_000006.12:g.36978895_36978898dup, NC_000006.12:g.36978894_36978898dup, NC_000006.12:g.36978893_36978898dup, NC_000006.12:g.36978892_36978898dup, NC_000006.12:g.36978891_36978898dup, NC_000006.12:g.36978890_36978898dup, NC_000006.12:g.36978889_36978898dup, NC_000006.12:g.36978888_36978898dup, NC_000006.12:g.36978887_36978898dup, NC_000006.12:g.36978886_36978898dup, NC_000006.12:g.36978882_36978898dup, NC_000006.12:g.36978880_36978898dup, NC_000006.12:g.36978876_36978898T[46]ATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.12:g.36978898_36978899insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.36946661_36946674del, NC_000006.11:g.36946662_36946674del, NC_000006.11:g.36946663_36946674del, NC_000006.11:g.36946664_36946674del, NC_000006.11:g.36946665_36946674del, NC_000006.11:g.36946666_36946674del, NC_000006.11:g.36946667_36946674del, NC_000006.11:g.36946668_36946674del, NC_000006.11:g.36946669_36946674del, NC_000006.11:g.36946670_36946674del, NC_000006.11:g.36946671_36946674del, NC_000006.11:g.36946672_36946674del, NC_000006.11:g.36946673_36946674del, NC_000006.11:g.36946674del, NC_000006.11:g.36946674dup, NC_000006.11:g.36946673_36946674dup, NC_000006.11:g.36946672_36946674dup, NC_000006.11:g.36946671_36946674dup, NC_000006.11:g.36946670_36946674dup, NC_000006.11:g.36946669_36946674dup, NC_000006.11:g.36946668_36946674dup, NC_000006.11:g.36946667_36946674dup, NC_000006.11:g.36946666_36946674dup, NC_000006.11:g.36946665_36946674dup, NC_000006.11:g.36946664_36946674dup, NC_000006.11:g.36946663_36946674dup, NC_000006.11:g.36946662_36946674dup, NC_000006.11:g.36946658_36946674dup, NC_000006.11:g.36946656_36946674dup, NC_000006.11:g.36946652_36946674T[46]ATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.36946674_36946675insTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913252602.

rs1491325260 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AT,ATT,ATTT,ATTTTTTTTTTTTTTTTTTT,CTCCTTT [Show Flanks]
Chromosome:: 6:36978875 (GRCh38)
6:36946652 (GRCh37)
Canonical SPDI:: NC_000006.12:36978875::A,NC_000006.12:36978875::AT,NC_000006.12:36978875::ATT,NC_000006.12:36978875::ATTT,NC_000006.12:36978875::ATTTTTTTTTTTTTTTTTTT,NC_000006.12:36978875::CTCCTTT
Gene:: MTCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATT=0./0 (ALFA)
HGVS:: NC_000006.12:g.36978875_36978876insA, NC_000006.12:g.36978875_36978876insAT, NC_000006.12:g.36978875_36978876insATT, NC_000006.12:g.36978875_36978876insATTT, NC_000006.12:g.36978875_36978876insATTTTTTTTTTTTTTTTTTT, NC_000006.12:g.36978875_36978876insCTCCTTT, NC_000006.11:g.36946651_36946652insA, NC_000006.11:g.36946651_36946652insAT, NC_000006.11:g.36946651_36946652insATT, NC_000006.11:g.36946651_36946652insATTT, NC_000006.11:g.36946651_36946652insATTTTTTTTTTTTTTTTTTT, NC_000006.11:g.36946651_36946652insCTCCTTT

Select item 14912779753.

rs1491277975 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:36978875 (GRCh38)
6:36946651 (GRCh37)
Canonical SPDI:: NC_000006.12:36978874:CT:
Gene:: MTCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000006.12:g.36978875_36978876del, NC_000006.11:g.36946651_36946652del

Select item 14908701184.

rs1490870118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:36972289 (GRCh38)
6:36940065 (GRCh37)
Canonical SPDI:: NC_000006.12:36972288:G:C
Gene:: MTCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.36972289G>C, NC_000006.11:g.36940065G>C

Select item 14908444005.

rs1490844400 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:36981580 (GRCh38)
6:36949356 (GRCh37)
Canonical SPDI:: NC_000006.12:36981579:A:G,NC_000006.12:36981579:A:T
Gene:: MTCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.36981580A>G, NC_000006.12:g.36981580A>T, NC_000006.11:g.36949356A>G, NC_000006.11:g.36949356A>T

Select item 14907953786.

rs1490795378 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:36980676 (GRCh38)
6:36948452 (GRCh37)
Canonical SPDI:: NC_000006.12:36980675:T:C
Gene:: MTCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.36980676T>C, NC_000006.11:g.36948452T>C

Select item 14904953247.

rs1490495324 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:36988421 (GRCh38)
6:36956197 (GRCh37)
Canonical SPDI:: NC_000006.12:36988420:A:C
Gene:: MTCH1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.36988421A>C, NC_000006.11:g.36956197A>C

Select item 14903678328.

rs1490367832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:36987304 (GRCh38)
6:36955080 (GRCh37)
Canonical SPDI:: NC_000006.12:36987303:C:A
Gene:: MTCH1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.36987304C>A, NC_000006.11:g.36955080C>A

Select item 14900539949.

rs1490053994 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:36986537 (GRCh38)
6:36954313 (GRCh37)
Canonical SPDI:: NC_000006.12:36986536:G:T
Gene:: MTCH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.36986537G>T, NC_000006.11:g.36954313G>T, XM_005248978.3:c.-364C>A, XM_005248979.3:c.-364C>A, NM_014341.2:c.-364C>A, NR_130739.1:n.15C>A, NM_001271641.1:c.-364C>A

Select item 149000259510.

rs1490002595 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:36979095 (GRCh38)
6:36946871 (GRCh37)
Canonical SPDI:: NC_000006.12:36979094:T:A,NC_000006.12:36979094:T:C
Gene:: MTCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.36979095T>A, NC_000006.12:g.36979095T>C, NC_000006.11:g.36946871T>A, NC_000006.11:g.36946871T>C

Select item 148993520611.

rs1489935206 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCAG [Show Flanks]
Chromosome:: 6:36984107 (GRCh38)
6:36951884 (GRCh37)
Canonical SPDI:: NC_000006.12:36984107:CCAG:CCAGCCAG
Gene:: MTCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCAGCCAG=0./0 (ALFA)
CCAG=0.000113/30 (TOPMED)
CCAG=0.000143/20 (GnomAD)
HGVS:: NC_000006.12:g.36984108_36984111dup, NC_000006.11:g.36951884_36951887dup

Select item 148979781812.

rs1489797818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:36971294 (GRCh38)
6:36939070 (GRCh37)
Canonical SPDI:: NC_000006.12:36971293:G:A,NC_000006.12:36971293:G:T
Gene:: MTCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.36971294G>A, NC_000006.12:g.36971294G>T, NC_000006.11:g.36939070G>A, NC_000006.11:g.36939070G>T

Select item 148952493713.

rs1489524937 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:36976640 (GRCh38)
6:36944416 (GRCh37)
Canonical SPDI:: NC_000006.12:36976639:A:C
Gene:: MTCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.36976640A>C, NC_000006.11:g.36944416A>C

Select item 148907088514.

rs1489070885 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:36969560 (GRCh38)
6:36937336 (GRCh37)
Canonical SPDI:: NC_000006.12:36969559:T:C,NC_000006.12:36969559:T:G
Gene:: MTCH1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (KOREAN)
C=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.36969560T>C, NC_000006.12:g.36969560T>G, NC_000006.11:g.36937336T>C, NC_000006.11:g.36937336T>G, XM_005248978.3:c.*293A>G, XM_005248978.3:c.*293A>C, XM_005248979.3:c.*293A>G, XM_005248979.3:c.*293A>C, NM_001410897.1:c.*293A>G, NM_001410897.1:c.*293A>C, NM_001410899.1:c.*293A>G, NM_001410899.1:c.*293A>C

Select item 148900251115.

rs1489002511 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:36973942 (GRCh38)
6:36941718 (GRCh37)
Canonical SPDI:: NC_000006.12:36973941:A:G
Gene:: MTCH1 (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_000006.12:g.36973942A>G, NC_000006.11:g.36941718A>G

Select item 148882510316.

rs1488825103 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:36982102 (GRCh38)
6:36949878 (GRCh37)
Canonical SPDI:: NC_000006.12:36982101:C:G
Gene:: MTCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.36982102C>G, NC_000006.11:g.36949878C>G

Select item 148879930217.

rs1488799302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:36975036 (GRCh38)
6:36942812 (GRCh37)
Canonical SPDI:: NC_000006.12:36975035:A:T
Gene:: MTCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.36975036A>T, NC_000006.11:g.36942812A>T

Select item 148868851518.

rs1488688515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:36968104 (GRCh38)
6:36935880 (GRCh37)
Canonical SPDI:: NC_000006.12:36968103:T:C
Gene:: MTCH1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000006.12:g.36968104T>C, NC_000006.11:g.36935880T>C

Select item 148862434219.

rs1488624342 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:36983025 (GRCh38)
6:36950801 (GRCh37)
Canonical SPDI:: NC_000006.12:36983024:T:C
Gene:: MTCH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.36983025T>C, NC_000006.11:g.36950801T>C

Select item 148783704420.

rs1487837044 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:36972991 (GRCh38)
6:36940767 (GRCh37)
Canonical SPDI:: NC_000006.12:36972990:G:A
Gene:: MTCH1 (Varview)
Functional Consequence:: 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_000006.12:g.36972991G>A, NC_000006.11:g.36940767G>A

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