SNP Links for Gene (Select 23788) - SNP

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Select item 14914403321.

rs1491440332 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:47638546 (GRCh38)
11:47660099 (GRCh37)
Canonical SPDI:: NC_000011.10:47638546::C
Gene:: MTCH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.47638546_47638547insC, NC_000011.9:g.47660098_47660099insC, NW_019805496.1:g.70912_70913insC

Select item 14914068742.

rs1491406874 has merged into rs1159771280 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 11:47623391 (GRCh38)
11:47644943 (GRCh37)
Canonical SPDI:: NC_000011.10:47623376:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:47623376:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:47623376:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:47623376:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47623376:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47623376:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47623376:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MTCH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000026/7 (TOPMED)
HGVS:: NC_000011.10:g.47623391_47623397del, NC_000011.10:g.47623395_47623397del, NC_000011.10:g.47623397del, NC_000011.10:g.47623397dup, NC_000011.10:g.47623396_47623397dup, NC_000011.10:g.47623395_47623397dup, NC_000011.10:g.47623394_47623397dup, NC_000011.9:g.47644943_47644949del, NC_000011.9:g.47644947_47644949del, NC_000011.9:g.47644949del, NC_000011.9:g.47644949dup, NC_000011.9:g.47644948_47644949dup, NC_000011.9:g.47644947_47644949dup, NC_000011.9:g.47644946_47644949dup, NW_019805496.1:g.51216_51222del, NW_019805496.1:g.51220_51222del, NW_019805496.1:g.51222del, NW_019805496.1:g.51222dup, NW_019805496.1:g.51221_51222dup, NW_019805496.1:g.51220_51222dup, NW_019805496.1:g.51219_51222dup

Select item 14914021463.

rs1491402146 has merged into rs11303582 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:47609470 (GRCh38)
11:47631022 (GRCh37)
Canonical SPDI:: NC_000011.10:47609457:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:47609457:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:47609457:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:47609457:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:47609457:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:47609457:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:47609457:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:47609457:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:47609457:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609457:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609457:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609457:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609457:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609457:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609457:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609457:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609457:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609457:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MTCH2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAA=0.0087/4 (NorthernSweden)
HGVS:: NC_000011.10:g.47609470_47609480del, NC_000011.10:g.47609471_47609480del, NC_000011.10:g.47609472_47609480del, NC_000011.10:g.47609473_47609480del, NC_000011.10:g.47609474_47609480del, NC_000011.10:g.47609475_47609480del, NC_000011.10:g.47609476_47609480del, NC_000011.10:g.47609477_47609480del, NC_000011.10:g.47609478_47609480del, NC_000011.10:g.47609479_47609480del, NC_000011.10:g.47609480del, NC_000011.10:g.47609480dup, NC_000011.10:g.47609479_47609480dup, NC_000011.10:g.47609478_47609480dup, NC_000011.10:g.47609477_47609480dup, NC_000011.10:g.47609475_47609480dup, NC_000011.10:g.47609470_47609480dup, NC_000011.10:g.47609469_47609480dup, NC_000011.9:g.47631022_47631032del, NC_000011.9:g.47631023_47631032del, NC_000011.9:g.47631024_47631032del, NC_000011.9:g.47631025_47631032del, NC_000011.9:g.47631026_47631032del, NC_000011.9:g.47631027_47631032del, NC_000011.9:g.47631028_47631032del, NC_000011.9:g.47631029_47631032del, NC_000011.9:g.47631030_47631032del, NC_000011.9:g.47631031_47631032del, NC_000011.9:g.47631032del, NC_000011.9:g.47631032dup, NC_000011.9:g.47631031_47631032dup, NC_000011.9:g.47631030_47631032dup, NC_000011.9:g.47631029_47631032dup, NC_000011.9:g.47631027_47631032dup, NC_000011.9:g.47631022_47631032dup, NC_000011.9:g.47631021_47631032dup, NW_019805496.1:g.37296_37306del, NW_019805496.1:g.37297_37306del, NW_019805496.1:g.37298_37306del, NW_019805496.1:g.37299_37306del, NW_019805496.1:g.37300_37306del, NW_019805496.1:g.37301_37306del, NW_019805496.1:g.37302_37306del, NW_019805496.1:g.37303_37306del, NW_019805496.1:g.37304_37306del, NW_019805496.1:g.37305_37306del, NW_019805496.1:g.37306del, NW_019805496.1:g.37306dup, NW_019805496.1:g.37305_37306dup, NW_019805496.1:g.37304_37306dup, NW_019805496.1:g.37303_37306dup, NW_019805496.1:g.37301_37306dup, NW_019805496.1:g.37296_37306dup, NW_019805496.1:g.37295_37306dup

Select item 14913897974.

rs1491389797 has merged into rs869251946 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:47633539 (GRCh38)
11:47655091 (GRCh37)
Canonical SPDI:: NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47633526:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MTCH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0457/20 (NorthernSweden)
HGVS:: NC_000011.10:g.47633539_47633550del, NC_000011.10:g.47633540_47633550del, NC_000011.10:g.47633541_47633550del, NC_000011.10:g.47633542_47633550del, NC_000011.10:g.47633543_47633550del, NC_000011.10:g.47633544_47633550del, NC_000011.10:g.47633545_47633550del, NC_000011.10:g.47633546_47633550del, NC_000011.10:g.47633547_47633550del, NC_000011.10:g.47633548_47633550del, NC_000011.10:g.47633549_47633550del, NC_000011.10:g.47633550del, NC_000011.10:g.47633550dup, NC_000011.10:g.47633549_47633550dup, NC_000011.10:g.47633548_47633550dup, NC_000011.10:g.47633547_47633550dup, NC_000011.10:g.47633546_47633550dup, NC_000011.10:g.47633545_47633550dup, NC_000011.10:g.47633544_47633550dup, NC_000011.10:g.47633543_47633550dup, NC_000011.10:g.47633539_47633550dup, NC_000011.10:g.47633531_47633550dup, NC_000011.9:g.47655091_47655102del, NC_000011.9:g.47655092_47655102del, NC_000011.9:g.47655093_47655102del, NC_000011.9:g.47655094_47655102del, NC_000011.9:g.47655095_47655102del, NC_000011.9:g.47655096_47655102del, NC_000011.9:g.47655097_47655102del, NC_000011.9:g.47655098_47655102del, NC_000011.9:g.47655099_47655102del, NC_000011.9:g.47655100_47655102del, NC_000011.9:g.47655101_47655102del, NC_000011.9:g.47655102del, NC_000011.9:g.47655102dup, NC_000011.9:g.47655101_47655102dup, NC_000011.9:g.47655100_47655102dup, NC_000011.9:g.47655099_47655102dup, NC_000011.9:g.47655098_47655102dup, NC_000011.9:g.47655097_47655102dup, NC_000011.9:g.47655096_47655102dup, NC_000011.9:g.47655095_47655102dup, NC_000011.9:g.47655091_47655102dup, NC_000011.9:g.47655083_47655102dup, NW_019805496.1:g.61358_61365dup, NW_019805496.1:g.61362_61365del, NW_019805496.1:g.61363_61365del, NW_019805496.1:g.61364_61365del, NW_019805496.1:g.61365del, NW_019805496.1:g.61365dup, NW_019805496.1:g.61364_61365dup, NW_019805496.1:g.61363_61365dup, NW_019805496.1:g.61362_61365dup, NW_019805496.1:g.61361_61365dup, NW_019805496.1:g.61360_61365dup, NW_019805496.1:g.61359_61365dup, NW_019805496.1:g.61357_61365dup, NW_019805496.1:g.61356_61365dup, NW_019805496.1:g.61355_61365dup, NW_019805496.1:g.61354_61365dup, NW_019805496.1:g.61353_61365dup, NW_019805496.1:g.61352_61365dup, NW_019805496.1:g.61351_61365dup, NW_019805496.1:g.61350_61365dup, NW_019805496.1:g.61365_61366insTTTTTTTTTTTTTTTTTTTT, NW_019805496.1:g.61365_61366insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913698805.

rs1491369880 has merged into rs59317101 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:47638552 (GRCh38)
11:47660104 (GRCh37)
Canonical SPDI:: NC_000011.10:47638545:AAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000011.10:47638545:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:47638545:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:47638545:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:47638545:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:47638545:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:47638545:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:47638545:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:47638545:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:47638545:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:47638545:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:47638545:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:47638545:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47638545:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47638545:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47638545:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47638545:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47638545:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47638545:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47638545:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MTCH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
A=0.425/17 (GENOME_DK)
-=0.4832/2420 (1000Genomes)
HGVS:: NC_000011.10:g.47638552_47638566del, NC_000011.10:g.47638554_47638566del, NC_000011.10:g.47638555_47638566del, NC_000011.10:g.47638556_47638566del, NC_000011.10:g.47638557_47638566del, NC_000011.10:g.47638558_47638566del, NC_000011.10:g.47638561_47638566del, NC_000011.10:g.47638562_47638566del, NC_000011.10:g.47638563_47638566del, NC_000011.10:g.47638564_47638566del, NC_000011.10:g.47638565_47638566del, NC_000011.10:g.47638566del, NC_000011.10:g.47638566dup, NC_000011.10:g.47638565_47638566dup, NC_000011.10:g.47638564_47638566dup, NC_000011.10:g.47638563_47638566dup, NC_000011.10:g.47638562_47638566dup, NC_000011.10:g.47638561_47638566dup, NC_000011.10:g.47638560_47638566dup, NC_000011.10:g.47638558_47638566dup, NC_000011.9:g.47660104_47660118del, NC_000011.9:g.47660106_47660118del, NC_000011.9:g.47660107_47660118del, NC_000011.9:g.47660108_47660118del, NC_000011.9:g.47660109_47660118del, NC_000011.9:g.47660110_47660118del, NC_000011.9:g.47660113_47660118del, NC_000011.9:g.47660114_47660118del, NC_000011.9:g.47660115_47660118del, NC_000011.9:g.47660116_47660118del, NC_000011.9:g.47660117_47660118del, NC_000011.9:g.47660118del, NC_000011.9:g.47660118dup, NC_000011.9:g.47660117_47660118dup, NC_000011.9:g.47660116_47660118dup, NC_000011.9:g.47660115_47660118dup, NC_000011.9:g.47660114_47660118dup, NC_000011.9:g.47660113_47660118dup, NC_000011.9:g.47660112_47660118dup, NC_000011.9:g.47660110_47660118dup, NW_019805496.1:g.70918_70932del, NW_019805496.1:g.70920_70932del, NW_019805496.1:g.70921_70932del, NW_019805496.1:g.70922_70932del, NW_019805496.1:g.70923_70932del, NW_019805496.1:g.70924_70932del, NW_019805496.1:g.70927_70932del, NW_019805496.1:g.70928_70932del, NW_019805496.1:g.70929_70932del, NW_019805496.1:g.70930_70932del, NW_019805496.1:g.70931_70932del, NW_019805496.1:g.70932del, NW_019805496.1:g.70932dup, NW_019805496.1:g.70931_70932dup, NW_019805496.1:g.70930_70932dup, NW_019805496.1:g.70929_70932dup, NW_019805496.1:g.70928_70932dup, NW_019805496.1:g.70927_70932dup, NW_019805496.1:g.70926_70932dup, NW_019805496.1:g.70924_70932dup

Select item 14913618366.

rs1491361836 has merged into rs61122824 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:47615043 (GRCh38)
11:47636595 (GRCh37)
Canonical SPDI:: NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:47615031:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MTCH2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.47615043_47615061del, NC_000011.10:g.47615044_47615061del, NC_000011.10:g.47615045_47615061del, NC_000011.10:g.47615046_47615061del, NC_000011.10:g.47615047_47615061del, NC_000011.10:g.47615048_47615061del, NC_000011.10:g.47615049_47615061del, NC_000011.10:g.47615050_47615061del, NC_000011.10:g.47615051_47615061del, NC_000011.10:g.47615052_47615061del, NC_000011.10:g.47615053_47615061del, NC_000011.10:g.47615054_47615061del, NC_000011.10:g.47615055_47615061del, NC_000011.10:g.47615056_47615061del, NC_000011.10:g.47615057_47615061del, NC_000011.10:g.47615058_47615061del, NC_000011.10:g.47615059_47615061del, NC_000011.10:g.47615060_47615061del, NC_000011.10:g.47615061del, NC_000011.10:g.47615061dup, NC_000011.10:g.47615060_47615061dup, NC_000011.10:g.47615044_47615061dup, NC_000011.9:g.47636595_47636613del, NC_000011.9:g.47636596_47636613del, NC_000011.9:g.47636597_47636613del, NC_000011.9:g.47636598_47636613del, NC_000011.9:g.47636599_47636613del, NC_000011.9:g.47636600_47636613del, NC_000011.9:g.47636601_47636613del, NC_000011.9:g.47636602_47636613del, NC_000011.9:g.47636603_47636613del, NC_000011.9:g.47636604_47636613del, NC_000011.9:g.47636605_47636613del, NC_000011.9:g.47636606_47636613del, NC_000011.9:g.47636607_47636613del, NC_000011.9:g.47636608_47636613del, NC_000011.9:g.47636609_47636613del, NC_000011.9:g.47636610_47636613del, NC_000011.9:g.47636611_47636613del, NC_000011.9:g.47636612_47636613del, NC_000011.9:g.47636613del, NC_000011.9:g.47636613dup, NC_000011.9:g.47636612_47636613dup, NC_000011.9:g.47636596_47636613dup, NW_019805496.1:g.42869_42887del, NW_019805496.1:g.42870_42887del, NW_019805496.1:g.42871_42887del, NW_019805496.1:g.42872_42887del, NW_019805496.1:g.42873_42887del, NW_019805496.1:g.42874_42887del, NW_019805496.1:g.42875_42887del, NW_019805496.1:g.42876_42887del, NW_019805496.1:g.42877_42887del, NW_019805496.1:g.42878_42887del, NW_019805496.1:g.42879_42887del, NW_019805496.1:g.42880_42887del, NW_019805496.1:g.42881_42887del, NW_019805496.1:g.42882_42887del, NW_019805496.1:g.42883_42887del, NW_019805496.1:g.42884_42887del, NW_019805496.1:g.42885_42887del, NW_019805496.1:g.42886_42887del, NW_019805496.1:g.42887del, NW_019805496.1:g.42887dup, NW_019805496.1:g.42886_42887dup, NW_019805496.1:g.42870_42887dup

Select item 14912679217.

rs1491267921 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:47615031 (GRCh38)
11:47636583 (GRCh37)
Canonical SPDI:: NC_000011.10:47615030:CT:
Gene:: MTCH2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000011.10:g.47615031_47615032del, NC_000011.9:g.47636583_47636584del, NW_019805496.1:g.42857_42858del

Select item 14912424948.

rs1491242494 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->ATATATATTTTATATATATATATATATATATTT
Chromosome:: no mapping
Canonical SPDI:

Select item 14912049639.

rs1491204963 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:47634768 (GRCh38)
11:47656320 (GRCh37)
Canonical SPDI:: NC_000011.10:47634767:GA:
Gene:: MTCH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000011.10:g.47634768_47634769del, NC_000011.9:g.47656320_47656321del, NW_019805496.1:g.62583_62584del

Select item 149118796110.

rs1491187961 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:47609626 (GRCh38)
11:47631178 (GRCh37)
Canonical SPDI:: NC_000011.10:47609625:CA:
Gene:: MTCH2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.47609626_47609627del, NC_000011.9:g.47631178_47631179del, NW_019805496.1:g.37452_37453del

Select item 149117856511.

rs1491178565 has merged into rs59115856 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:47609636 (GRCh38)
11:47631188 (GRCh37)
Canonical SPDI:: NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:47609626:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MTCH2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAA=0.025/1 (GENOME_DK)
AAAAAAAAA=0.2532/1268 (1000Genomes)
HGVS:: NC_000011.10:g.47609636_47609651del, NC_000011.10:g.47609637_47609651del, NC_000011.10:g.47609638_47609651del, NC_000011.10:g.47609639_47609651del, NC_000011.10:g.47609640_47609651del, NC_000011.10:g.47609641_47609651del, NC_000011.10:g.47609642_47609651del, NC_000011.10:g.47609643_47609651del, NC_000011.10:g.47609644_47609651del, NC_000011.10:g.47609645_47609651del, NC_000011.10:g.47609646_47609651del, NC_000011.10:g.47609647_47609651del, NC_000011.10:g.47609648_47609651del, NC_000011.10:g.47609649_47609651del, NC_000011.10:g.47609650_47609651del, NC_000011.10:g.47609651del, NC_000011.10:g.47609651dup, NC_000011.10:g.47609650_47609651dup, NC_000011.10:g.47609649_47609651dup, NC_000011.10:g.47609648_47609651dup, NC_000011.10:g.47609647_47609651dup, NC_000011.10:g.47609646_47609651dup, NC_000011.10:g.47609645_47609651dup, NC_000011.10:g.47609644_47609651dup, NC_000011.10:g.47609643_47609651dup, NC_000011.10:g.47609642_47609651dup, NC_000011.10:g.47609641_47609651dup, NC_000011.10:g.47609636_47609651dup, NC_000011.9:g.47631188_47631203del, NC_000011.9:g.47631189_47631203del, NC_000011.9:g.47631190_47631203del, NC_000011.9:g.47631191_47631203del, NC_000011.9:g.47631192_47631203del, NC_000011.9:g.47631193_47631203del, NC_000011.9:g.47631194_47631203del, NC_000011.9:g.47631195_47631203del, NC_000011.9:g.47631196_47631203del, NC_000011.9:g.47631197_47631203del, NC_000011.9:g.47631198_47631203del, NC_000011.9:g.47631199_47631203del, NC_000011.9:g.47631200_47631203del, NC_000011.9:g.47631201_47631203del, NC_000011.9:g.47631202_47631203del, NC_000011.9:g.47631203del, NC_000011.9:g.47631203dup, NC_000011.9:g.47631202_47631203dup, NC_000011.9:g.47631201_47631203dup, NC_000011.9:g.47631200_47631203dup, NC_000011.9:g.47631199_47631203dup, NC_000011.9:g.47631198_47631203dup, NC_000011.9:g.47631197_47631203dup, NC_000011.9:g.47631196_47631203dup, NC_000011.9:g.47631195_47631203dup, NC_000011.9:g.47631194_47631203dup, NC_000011.9:g.47631193_47631203dup, NC_000011.9:g.47631188_47631203dup, NW_019805496.1:g.37462_37477del, NW_019805496.1:g.37463_37477del, NW_019805496.1:g.37464_37477del, NW_019805496.1:g.37465_37477del, NW_019805496.1:g.37466_37477del, NW_019805496.1:g.37467_37477del, NW_019805496.1:g.37468_37477del, NW_019805496.1:g.37469_37477del, NW_019805496.1:g.37470_37477del, NW_019805496.1:g.37471_37477del, NW_019805496.1:g.37472_37477del, NW_019805496.1:g.37473_37477del, NW_019805496.1:g.37474_37477del, NW_019805496.1:g.37475_37477del, NW_019805496.1:g.37476_37477del, NW_019805496.1:g.37477del, NW_019805496.1:g.37477dup, NW_019805496.1:g.37476_37477dup, NW_019805496.1:g.37475_37477dup, NW_019805496.1:g.37474_37477dup, NW_019805496.1:g.37473_37477dup, NW_019805496.1:g.37472_37477dup, NW_019805496.1:g.37471_37477dup, NW_019805496.1:g.37470_37477dup, NW_019805496.1:g.37469_37477dup, NW_019805496.1:g.37468_37477dup, NW_019805496.1:g.37467_37477dup, NW_019805496.1:g.37462_37477dup

Select item 149112097512.

rs1491120975 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:47609457 (GRCh38)
11:47631009 (GRCh37)
Canonical SPDI:: NC_000011.10:47609456:CA:
Gene:: MTCH2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.47609457_47609458del, NC_000011.9:g.47631009_47631010del, NW_019805496.1:g.37283_37284del

Select item 149108446813.

rs1491084468 has merged into rs561328319 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 11:47604293 (GRCh38)
11:47625845 (GRCh37)
Canonical SPDI:: NC_000011.10:47604281:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:47604281:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:47604281:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:47604281:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:47604281:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:47604281:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:47604281:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: MTCH2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.47604293_47604297del, NC_000011.10:g.47604295_47604297del, NC_000011.10:g.47604296_47604297del, NC_000011.10:g.47604297del, NC_000011.10:g.47604297dup, NC_000011.10:g.47604296_47604297dup, NC_000011.10:g.47604295_47604297dup, NC_000011.9:g.47625845_47625849del, NC_000011.9:g.47625847_47625849del, NC_000011.9:g.47625848_47625849del, NC_000011.9:g.47625849del, NC_000011.9:g.47625849dup, NC_000011.9:g.47625848_47625849dup, NC_000011.9:g.47625847_47625849dup, NW_019805496.1:g.32119_32123del, NW_019805496.1:g.32121_32123del, NW_019805496.1:g.32122_32123del, NW_019805496.1:g.32123del, NW_019805496.1:g.32123dup, NW_019805496.1:g.32122_32123dup, NW_019805496.1:g.32121_32123dup

Select item 149104654814.

rs1491046548 has merged into rs113436646 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 11:47625433 (GRCh38)
11:47646985 (GRCh37)
Canonical SPDI:: NC_000011.10:47625422:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:47625422:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:47625422:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:47625422:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:47625422:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:47625422:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:47625422:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: MTCH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.3/12 (GENOME_DK)
-=0.3446/621 (Korea1K)
HGVS:: NC_000011.10:g.47625433_47625436del, NC_000011.10:g.47625434_47625436del, NC_000011.10:g.47625435_47625436del, NC_000011.10:g.47625436del, NC_000011.10:g.47625436dup, NC_000011.10:g.47625435_47625436dup, NC_000011.10:g.47625430_47625436dup, NC_000011.9:g.47646985_47646988del, NC_000011.9:g.47646986_47646988del, NC_000011.9:g.47646987_47646988del, NC_000011.9:g.47646988del, NC_000011.9:g.47646988dup, NC_000011.9:g.47646987_47646988dup, NC_000011.9:g.47646982_47646988dup, NW_019805496.1:g.53260_53263del, NW_019805496.1:g.53261_53263del, NW_019805496.1:g.53262_53263del, NW_019805496.1:g.53263del, NW_019805496.1:g.53263dup, NW_019805496.1:g.53262_53263dup, NW_019805496.1:g.53257_53263dup

Select item 149100391615.

rs1491003916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:47607508 (GRCh38)
11:47629060 (GRCh37)
Canonical SPDI:: NC_000011.10:47607507:G:A
Gene:: MTCH2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.47607508G>A, NC_000011.9:g.47629060G>A, NW_019805496.1:g.35334G>A

Select item 149080301316.

rs1490803013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:47639033 (GRCh38)
11:47660585 (GRCh37)
Canonical SPDI:: NC_000011.10:47639032:G:C
Gene:: MTCH2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.47639033G>C, NC_000011.9:g.47660585G>C, NW_019805496.1:g.71399G>C, XM_011519960.4:c.106C>G, XM_011519960.3:c.106C>G, XM_011519960.2:c.106C>G, XM_011519960.1:c.106C>G, NM_014342.4:c.106C>G, NM_014342.3:c.106C>G, XM_011519959.3:c.106C>G, XM_011519959.2:c.106C>G, XM_011519959.1:c.106C>G, XM_011519961.3:c.106C>G, XM_011519961.2:c.106C>G, XM_011519961.1:c.106C>G, XM_006718172.3:c.106C>G, XM_006718172.2:c.106C>G, XM_006718172.1:c.106C>G, XM_017017462.3:c.106C>G, XM_017017462.2:c.106C>G, XM_017017462.1:c.106C>G, NM_001317231.2:c.106C>G, NM_001317231.1:c.106C>G, NM_001317232.2:c.106C>G, NM_001317232.1:c.106C>G, NM_001317233.2:c.-281C>G, NM_001317233.1:c.-281C>G, XM_047426700.1:c.-249C>G, XM_047426701.1:c.-276C>G, XP_011518262.1:p.Pro36Ala, NP_055157.1:p.Pro36Ala, XP_011518261.1:p.Pro36Ala, XP_011518263.1:p.Pro36Ala, XP_006718235.1:p.Pro36Ala, XP_016872951.1:p.Pro36Ala, NP_001304160.1:p.Pro36Ala, NP_001304161.1:p.Pro36Ala

Select item 149078975317.

rs1490789753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:47643978 (GRCh38)
11:47665530 (GRCh37)
Canonical SPDI:: NC_000011.10:47643977:C:T
Gene:: MTCH2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.47643978C>T, NC_000011.9:g.47665530C>T, NW_019805496.1:g.76344C>T

Select item 149074266918.

rs1490742669 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:47614752 (GRCh38)
11:47636304 (GRCh37)
Canonical SPDI:: NC_000011.10:47614751:A:G,NC_000011.10:47614751:A:T
Gene:: MTCH2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.47614752A>G, NC_000011.10:g.47614752A>T, NC_000011.9:g.47636304A>G, NC_000011.9:g.47636304A>T, NW_019805496.1:g.42578A>G, NW_019805496.1:g.42578A>T

Select item 149070177019.

rs1490701770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:47619767 (GRCh38)
11:47641319 (GRCh37)
Canonical SPDI:: NC_000011.10:47619766:C:G
Gene:: MTCH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.47619767C>G, NC_000011.9:g.47641319C>G, NW_019805496.1:g.47593C>G

Select item 149067806320.

rs1490678063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:47613667 (GRCh38)
11:47635219 (GRCh37)
Canonical SPDI:: NC_000011.10:47613666:G:A
Gene:: MTCH2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.47613667G>A, NC_000011.9:g.47635219G>A, NW_019805496.1:g.41493G>A

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