SNP Links for Gene (Select 57221) - SNP

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Select item 14915437081.

rs1491543708 has merged into rs763032227 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 6:138323632 (GRCh38)
6:138644770 (GRCh37)
Canonical SPDI:: NC_000006.12:138323632:AA:AAA,NC_000006.12:138323632:AA:AAAA
Gene:: ARFGEF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0.005853/122 (ALFA)
A=0.000209/29 (GnomAD)
A=0.00046/8 (TOMMO)
A=0.002744/5 (Korea1K)
A=0.004152/16 (ALSPAC)
A=0.005933/22 (TWINSUK)
HGVS:: NC_000006.12:g.138323634dup, NC_000006.12:g.138323633_138323634dup, NC_000006.11:g.138644771dup, NC_000006.11:g.138644770_138644771dup

Select item 14914718142.

rs1491471814 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:138323633 (GRCh38)
6:138644770 (GRCh37)
Canonical SPDI:: NC_000006.12:138323632:AA:
Gene:: ARFGEF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0086/32 (TWINSUK)
-=0.0099/38 (ALSPAC)
HGVS:: NC_000006.12:g.138323633_138323634del, NC_000006.11:g.138644770_138644771del

Select item 14914688373.

rs1491468837 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:138215842 (GRCh38)
6:138536980 (GRCh37)
Canonical SPDI:: NC_000006.12:138215842:T:TT
Gene:: ARFGEF3 (Varview), PBOV1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.00042/2 (GnomAD)
HGVS:: NC_000006.12:g.138215843dup, NC_000006.11:g.138536980dup, NG_029816.1:g.7648dup

Select item 14914622074.

rs1491462207 [Homo sapiens]

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

Select item 14914412645.

rs1491441264 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 6:138228194 (GRCh38)
6:138549331 (GRCh37)
Canonical SPDI:: NC_000006.12:138228193:TG:
Gene:: ARFGEF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.003288/39 (ALFA)
-=0.000298/38 (GnomAD)
-=0.001106/31 (TOMMO)
HGVS:: NC_000006.12:g.138228194_138228195del, NC_000006.11:g.138549331_138549332del

Select item 14913849936.

rs1491384993 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 6:138194092 (GRCh38)
6:138515229 (GRCh37)
Canonical SPDI:: NC_000006.12:138194091:AC:
Gene:: ARFGEF3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.138194092_138194093del, NC_000006.11:g.138515229_138515230del

Select item 14912756357.

rs1491275635 has merged into rs200662940 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 6:138323635 (GRCh38)
6:138644772 (GRCh37)
Canonical SPDI:: NC_000006.12:138323633:ACA:A,NC_000006.12:138323633:ACA:ACACA
Gene:: ARFGEF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.02908/738 (ALFA)
-=0.015049/58 (ALSPAC)
-=0.019417/72 (TWINSUK)
-=0.021667/13 (NorthernSweden)
-=0.027834/3882 (GnomAD)
-=0.032827/8689 (TOPMED)
-=0.034441/3688 (ExAC)
-=0.036062/8121 (GnomAD_exomes)
-=0.042942/275 (1000Genomes)
-=0.067822/849 (GoESP)
-=0.113537/208 (Korea1K)
-=0.128742/2156 (TOMMO)
HGVS:: NC_000006.12:g.138323635_138323636del, NC_000006.12:g.138323635_138323636dup, NC_000006.11:g.138644772_138644773del, NC_000006.11:g.138644772_138644773dup

Select item 14912717218.

rs1491271721 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA,TGAA [Show Flanks]
Chromosome:: 6:138215888 (GRCh38)
6:138537026 (GRCh37)
Canonical SPDI:: NC_000006.12:138215888::TA,NC_000006.12:138215888::TGAA
Gene:: ARFGEF3 (Varview), PBOV1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.138215888_138215889insTA, NC_000006.12:g.138215888_138215889insTGAA, NC_000006.11:g.138537025_138537026insTA, NC_000006.11:g.138537025_138537026insTGAA, NG_029816.1:g.7602_7603insTA, NG_029816.1:g.7602_7603insTTCA

Select item 14912542849.

rs1491254284 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:138215888 (GRCh38)
6:138537025 (GRCh37)
Canonical SPDI:: NC_000006.12:138215887:GA:
Gene:: ARFGEF3 (Varview), PBOV1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00021/13 (GnomAD)
HGVS:: NC_000006.12:g.138215888_138215889del, NC_000006.11:g.138537025_138537026del, NG_029816.1:g.7602_7603del

Select item 149121825910.

rs1491218259 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 6:138234475 (GRCh38)
6:138555612 (GRCh37)
Canonical SPDI:: NC_000006.12:138234474:CG:
Gene:: ARFGEF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0023/9 (ALSPAC)
-=0.0059/22 (TWINSUK)
HGVS:: NC_000006.12:g.138234475_138234476del, NC_000006.11:g.138555612_138555613del

Select item 149116648711.

rs1491166487 has merged into rs10642229 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 6:138234491 (GRCh38)
6:138555628 (GRCh37)
Canonical SPDI:: NC_000006.12:138234475:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000006.12:138234475:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000006.12:138234475:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000006.12:138234475:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138234475:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138234475:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138234475:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138234475:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138234475:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138234475:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138234475:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138234475:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: ARFGEF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTG=0./0 (ALFA)
-=0.5/4 (KOREAN)
HGVS:: NC_000006.12:g.138234477TG[7], NC_000006.12:g.138234477TG[8], NC_000006.12:g.138234477TG[9], NC_000006.12:g.138234477TG[10], NC_000006.12:g.138234477TG[11], NC_000006.12:g.138234477TG[13], NC_000006.12:g.138234477TG[14], NC_000006.12:g.138234477TG[15], NC_000006.12:g.138234477TG[16], NC_000006.12:g.138234477TG[17], NC_000006.12:g.138234477TG[18], NC_000006.12:g.138234477TG[19], NC_000006.11:g.138555614TG[7], NC_000006.11:g.138555614TG[8], NC_000006.11:g.138555614TG[9], NC_000006.11:g.138555614TG[10], NC_000006.11:g.138555614TG[11], NC_000006.11:g.138555614TG[13], NC_000006.11:g.138555614TG[14], NC_000006.11:g.138555614TG[15], NC_000006.11:g.138555614TG[16], NC_000006.11:g.138555614TG[17], NC_000006.11:g.138555614TG[18], NC_000006.11:g.138555614TG[19]

Select item 149115043912.

rs1491150439 has merged into rs71693484 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:138186912 (GRCh38)
6:138508049 (GRCh37)
Canonical SPDI:: NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138186902:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ARFGEF3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.138186912_138186932del, NC_000006.12:g.138186914_138186932del, NC_000006.12:g.138186915_138186932del, NC_000006.12:g.138186916_138186932del, NC_000006.12:g.138186917_138186932del, NC_000006.12:g.138186918_138186932del, NC_000006.12:g.138186919_138186932del, NC_000006.12:g.138186920_138186932del, NC_000006.12:g.138186921_138186932del, NC_000006.12:g.138186922_138186932del, NC_000006.12:g.138186923_138186932del, NC_000006.12:g.138186924_138186932del, NC_000006.12:g.138186925_138186932del, NC_000006.12:g.138186926_138186932del, NC_000006.12:g.138186927_138186932del, NC_000006.12:g.138186928_138186932del, NC_000006.12:g.138186929_138186932del, NC_000006.12:g.138186930_138186932del, NC_000006.12:g.138186931_138186932del, NC_000006.12:g.138186932del, NC_000006.12:g.138186932dup, NC_000006.12:g.138186931_138186932dup, NC_000006.12:g.138186930_138186932dup, NC_000006.12:g.138186929_138186932dup, NC_000006.12:g.138186928_138186932dup, NC_000006.12:g.138186927_138186932dup, NC_000006.12:g.138186926_138186932dup, NC_000006.12:g.138186925_138186932dup, NC_000006.12:g.138186924_138186932dup, NC_000006.12:g.138186923_138186932dup, NC_000006.12:g.138186922_138186932dup, NC_000006.12:g.138186921_138186932dup, NC_000006.12:g.138186920_138186932dup, NC_000006.12:g.138186919_138186932dup, NC_000006.12:g.138186916_138186932dup, NC_000006.12:g.138186914_138186932dup, NC_000006.12:g.138186908_138186932dup, NC_000006.12:g.138186904_138186932dup, NC_000006.12:g.138186903_138186932dup, NC_000006.12:g.138186932_138186933insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.138186932_138186933insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.138186932_138186933insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.138186932_138186933insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.138186932_138186933insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.138186932_138186933insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.138508049_138508069del, NC_000006.11:g.138508051_138508069del, NC_000006.11:g.138508052_138508069del, NC_000006.11:g.138508053_138508069del, NC_000006.11:g.138508054_138508069del, NC_000006.11:g.138508055_138508069del, NC_000006.11:g.138508056_138508069del, NC_000006.11:g.138508057_138508069del, NC_000006.11:g.138508058_138508069del, NC_000006.11:g.138508059_138508069del, NC_000006.11:g.138508060_138508069del, NC_000006.11:g.138508061_138508069del, NC_000006.11:g.138508062_138508069del, NC_000006.11:g.138508063_138508069del, NC_000006.11:g.138508064_138508069del, NC_000006.11:g.138508065_138508069del, NC_000006.11:g.138508066_138508069del, NC_000006.11:g.138508067_138508069del, NC_000006.11:g.138508068_138508069del, NC_000006.11:g.138508069del, NC_000006.11:g.138508069dup, NC_000006.11:g.138508068_138508069dup, NC_000006.11:g.138508067_138508069dup, NC_000006.11:g.138508066_138508069dup, NC_000006.11:g.138508065_138508069dup, NC_000006.11:g.138508064_138508069dup, NC_000006.11:g.138508063_138508069dup, NC_000006.11:g.138508062_138508069dup, NC_000006.11:g.138508061_138508069dup, NC_000006.11:g.138508060_138508069dup, NC_000006.11:g.138508059_138508069dup, NC_000006.11:g.138508058_138508069dup, NC_000006.11:g.138508057_138508069dup, NC_000006.11:g.138508056_138508069dup, NC_000006.11:g.138508053_138508069dup, NC_000006.11:g.138508051_138508069dup, NC_000006.11:g.138508045_138508069dup, NC_000006.11:g.138508041_138508069dup, NC_000006.11:g.138508040_138508069dup, NC_000006.11:g.138508069_138508070insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.138508069_138508070insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.138508069_138508070insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.138508069_138508070insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.138508069_138508070insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.138508069_138508070insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149109464613.

rs1491094646 has merged into rs61141343 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG>-,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 6:138215851 (GRCh38)
6:138536988 (GRCh37)
Canonical SPDI:: NC_000006.12:138215841:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTG,NC_000006.12:138215841:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000006.12:138215841:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000006.12:138215841:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138215841:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138215841:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138215841:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138215841:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138215841:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138215841:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138215841:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138215841:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138215841:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138215841:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138215841:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138215841:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138215841:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138215841:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138215841:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138215841:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:138215841:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: ARFGEF3 (Varview), PBOV1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000006.12:g.138215843TG[4], NC_000006.12:g.138215843TG[8], NC_000006.12:g.138215843TG[9], NC_000006.12:g.138215843TG[10], NC_000006.12:g.138215843TG[11], NC_000006.12:g.138215843TG[12], NC_000006.12:g.138215843TG[13], NC_000006.12:g.138215843TG[14], NC_000006.12:g.138215843TG[15], NC_000006.12:g.138215843TG[16], NC_000006.12:g.138215843TG[17], NC_000006.12:g.138215843TG[18], NC_000006.12:g.138215843TG[19], NC_000006.12:g.138215843TG[20], NC_000006.12:g.138215843TG[21], NC_000006.12:g.138215843TG[22], NC_000006.12:g.138215843TG[24], NC_000006.12:g.138215843TG[25], NC_000006.12:g.138215843TG[26], NC_000006.12:g.138215843TG[27], NC_000006.12:g.138215843TG[28], NC_000006.11:g.138536980TG[4], NC_000006.11:g.138536980TG[8], NC_000006.11:g.138536980TG[9], NC_000006.11:g.138536980TG[10], NC_000006.11:g.138536980TG[11], NC_000006.11:g.138536980TG[12], NC_000006.11:g.138536980TG[13], NC_000006.11:g.138536980TG[14], NC_000006.11:g.138536980TG[15], NC_000006.11:g.138536980TG[16], NC_000006.11:g.138536980TG[17], NC_000006.11:g.138536980TG[18], NC_000006.11:g.138536980TG[19], NC_000006.11:g.138536980TG[20], NC_000006.11:g.138536980TG[21], NC_000006.11:g.138536980TG[22], NC_000006.11:g.138536980TG[24], NC_000006.11:g.138536980TG[25], NC_000006.11:g.138536980TG[26], NC_000006.11:g.138536980TG[27], NC_000006.11:g.138536980TG[28], NG_029816.1:g.7604AC[4], NG_029816.1:g.7604AC[8], NG_029816.1:g.7604AC[9], NG_029816.1:g.7604AC[10], NG_029816.1:g.7604AC[11], NG_029816.1:g.7604AC[12], NG_029816.1:g.7604AC[13], NG_029816.1:g.7604AC[14], NG_029816.1:g.7604AC[15], NG_029816.1:g.7604AC[16], NG_029816.1:g.7604AC[17], NG_029816.1:g.7604AC[18], NG_029816.1:g.7604AC[19], NG_029816.1:g.7604AC[20], NG_029816.1:g.7604AC[21], NG_029816.1:g.7604AC[22], NG_029816.1:g.7604AC[24], NG_029816.1:g.7604AC[25], NG_029816.1:g.7604AC[26], NG_029816.1:g.7604AC[27], NG_029816.1:g.7604AC[28]

Select item 149107623914.

rs1491076239 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:138243728 (GRCh38)
6:138564865 (GRCh37)
Canonical SPDI:: NC_000006.12:138243727:AG:
Gene:: ARFGEF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.138243728_138243729del, NC_000006.11:g.138564865_138564866del

Select item 149106883915.

rs1491068839 has merged into rs56283991 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 6:138319133 (GRCh38)
6:138640270 (GRCh37)
Canonical SPDI:: NC_000006.12:138319118:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:138319118:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:138319118:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:138319118:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:138319118:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:138319118:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:138319118:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ARFGEF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.138319133_138319135del, NC_000006.12:g.138319134_138319135del, NC_000006.12:g.138319135del, NC_000006.12:g.138319135dup, NC_000006.12:g.138319134_138319135dup, NC_000006.12:g.138319133_138319135dup, NC_000006.12:g.138319129_138319135dup, NC_000006.11:g.138640270_138640272del, NC_000006.11:g.138640271_138640272del, NC_000006.11:g.138640272del, NC_000006.11:g.138640272dup, NC_000006.11:g.138640271_138640272dup, NC_000006.11:g.138640270_138640272dup, NC_000006.11:g.138640266_138640272dup

Select item 149105230016.

rs1491052300 has merged into rs66483625 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 6:138243727 (GRCh38)
6:138564864 (GRCh37)
Canonical SPDI:: NC_000006.12:138243719:AAAAAAAAA:AAAAAAA,NC_000006.12:138243719:AAAAAAAAA:AAAAAAAA,NC_000006.12:138243719:AAAAAAAAA:AAAAAAAAAA,NC_000006.12:138243719:AAAAAAAAA:AAAAAAAAAAA,NC_000006.12:138243719:AAAAAAAAA:AAAAAAAAAAAA
Gene:: ARFGEF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.075765/292 (ALSPAC)
A=0.090301/54 (NorthernSweden)
A=0.093186/93 (GoNL)
A=0.094121/349 (TWINSUK)
A=0.094843/423 (Estonian)
A=0.1/4 (GENOME_DK)
A=0.245407/1229 (1000Genomes)
A=0.40393/740 (Korea1K)
HGVS:: NC_000006.12:g.138243727_138243728del, NC_000006.12:g.138243728del, NC_000006.12:g.138243728dup, NC_000006.12:g.138243727_138243728dup, NC_000006.12:g.138243726_138243728dup, NC_000006.11:g.138564864_138564865del, NC_000006.11:g.138564865del, NC_000006.11:g.138564865dup, NC_000006.11:g.138564864_138564865dup, NC_000006.11:g.138564863_138564865dup

Select item 149104341717.

rs1491043417 has merged into rs11331667 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG [Show Flanks]
Chromosome:: 6:138320952 (GRCh38)
6:138642089 (GRCh37)
Canonical SPDI:: NC_000006.12:138320945:GGGGGGGGG:GGGGGG,NC_000006.12:138320945:GGGGGGGGG:GGGGGGG,NC_000006.12:138320945:GGGGGGGGG:GGGGGGGG,NC_000006.12:138320945:GGGGGGGGG:GGGGGGGGGG,NC_000006.12:138320945:GGGGGGGGG:GGGGGGGGGGG
Gene:: ARFGEF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGG=0./0 (ALFA)
-=0.005708/22 (ALSPAC)
G=0.063333/38 (NorthernSweden)
G=0.075/3 (GENOME_DK)
G=0.098044/431 (Estonian)
G=0.129185/34194 (TOPMED)
G=0.146454/733 (1000Genomes)
HGVS:: NC_000006.12:g.138320952_138320954del, NC_000006.12:g.138320953_138320954del, NC_000006.12:g.138320954del, NC_000006.12:g.138320954dup, NC_000006.12:g.138320953_138320954dup, NC_000006.11:g.138642089_138642091del, NC_000006.11:g.138642090_138642091del, NC_000006.11:g.138642091del, NC_000006.11:g.138642091dup, NC_000006.11:g.138642090_138642091dup

Select item 149102556718.

rs1491025567 has merged into rs549915422 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:138228182 (GRCh38)
6:138549319 (GRCh37)
Canonical SPDI:: NC_000006.12:138228172:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:138228172:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:138228172:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:138228172:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:138228172:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:138228172:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:138228172:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:138228172:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138228172:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138228172:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138228172:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138228172:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138228172:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138228172:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:138228172:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ARFGEF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTT=0./0 (GENOME_DK)
-=0.0445/223 (1000Genomes)
HGVS:: NC_000006.12:g.138228182_138228194del, NC_000006.12:g.138228186_138228194del, NC_000006.12:g.138228188_138228194del, NC_000006.12:g.138228189_138228194del, NC_000006.12:g.138228191_138228194del, NC_000006.12:g.138228192_138228194del, NC_000006.12:g.138228193_138228194del, NC_000006.12:g.138228194del, NC_000006.12:g.138228194dup, NC_000006.12:g.138228193_138228194dup, NC_000006.12:g.138228192_138228194dup, NC_000006.12:g.138228191_138228194dup, NC_000006.12:g.138228190_138228194dup, NC_000006.12:g.138228189_138228194dup, NC_000006.12:g.138228188_138228194dup, NC_000006.11:g.138549319_138549331del, NC_000006.11:g.138549323_138549331del, NC_000006.11:g.138549325_138549331del, NC_000006.11:g.138549326_138549331del, NC_000006.11:g.138549328_138549331del, NC_000006.11:g.138549329_138549331del, NC_000006.11:g.138549330_138549331del, NC_000006.11:g.138549331del, NC_000006.11:g.138549331dup, NC_000006.11:g.138549330_138549331dup, NC_000006.11:g.138549329_138549331dup, NC_000006.11:g.138549328_138549331dup, NC_000006.11:g.138549327_138549331dup, NC_000006.11:g.138549326_138549331dup, NC_000006.11:g.138549325_138549331dup

Select item 149100573519.

rs1491005735 [Homo sapiens]

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

Select item 149096502020.

rs1490965020 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 6:138320926 (GRCh38)
6:138642063 (GRCh37)
Canonical SPDI:: NC_000006.12:138320925:TT:T
Gene:: ARFGEF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.138320927del, NC_000006.11:g.138642064del

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