SNP Links for Gene (Select 757) - SNP

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Select item 14914788261.

rs1491478826 has merged into rs71322214 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 21:33461814 (GRCh38)
21:34834121 (GRCh37)
Canonical SPDI:: NC_000021.9:33461802:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000021.9:33461802:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000021.9:33461802:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:33461802:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: TMEM50B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
A=0.167532/839 (1000Genomes)
A=0.204423/758 (TWINSUK)
A=0.218215/841 (ALSPAC)
A=0.249158/148 (NorthernSweden)
A=0.275/11 (GENOME_DK)
HGVS:: NC_000021.9:g.33461814_33461815del, NC_000021.9:g.33461815del, NC_000021.9:g.33461815dup, NC_000021.9:g.33461814_33461815dup, NC_000021.8:g.34834121_34834122del, NC_000021.8:g.34834122del, NC_000021.8:g.34834122dup, NC_000021.8:g.34834121_34834122dup, NG_007570.2:g.81823_81824del, NG_007570.2:g.81824del, NG_007570.2:g.81824dup, NG_007570.2:g.81823_81824dup, NW_003315970.2:g.56386_56387del, NW_003315970.2:g.56387del, NW_003315970.2:g.56387dup, NW_003315970.2:g.56386_56387dup, NW_003315970.1:g.56387_56388del, NW_003315970.1:g.56388del, NW_003315970.1:g.56388dup, NW_003315970.1:g.56387_56388dup

Select item 14913442012.

rs1491344201 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 21:33476779 (GRCh38)
21:34849087 (GRCh37)
Canonical SPDI:: NC_000021.9:33476779:C:CC
Gene:: TMEM50B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.00006/1 (TOMMO)
C=0.000151/21 (GnomAD)
HGVS:: NC_000021.9:g.33476780dup, NC_000021.8:g.34849087dup, NG_007570.2:g.96789dup, NW_003315970.2:g.80909dup, NW_003315970.1:g.80910dup

Select item 14913273833.

rs1491327383 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 21:33476780 (GRCh38)
21:34849087 (GRCh37)
Canonical SPDI:: NC_000021.9:33476778:ACA:A
Gene:: TMEM50B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000021.9:g.33476780_33476781del, NC_000021.8:g.34849087_34849088del, NG_007570.2:g.96789_96790del, NW_003315970.2:g.80909_80910del, NW_003315970.1:g.80910_80911del

Select item 14911792774.

rs1491179277 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 21:33472028 (GRCh38)
21:34844335 (GRCh37)
Canonical SPDI:: NC_000021.9:33472027:CT:
Gene:: TMEM50B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0002/1 (ALFA)
HGVS:: NC_000021.9:g.33472028_33472029del, NC_000021.8:g.34844335_34844336del, NG_007570.2:g.92037_92038del, NW_003315970.2:g.66614_66615del, NW_003315970.1:g.66615_66616del

Select item 14910981925.

rs1491098192 has merged into rs143248516 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 21:33432900 (GRCh38)
21:34805207 (GRCh37)
Canonical SPDI:: NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTT,NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: TMEM50B (Varview), IFNGR2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
TTT=0.005591/28 (1000Genomes)
T=0.177305/100 (NorthernSweden)
-=0.5/4 (KOREAN)
HGVS:: NC_000021.9:g.33432900_33432903del, NC_000021.9:g.33432901_33432903del, NC_000021.9:g.33432902_33432903del, NC_000021.9:g.33432903del, NC_000021.9:g.33432903dup, NC_000021.9:g.33432902_33432903dup, NC_000021.9:g.33432901_33432903dup, NC_000021.8:g.34805207_34805210del, NC_000021.8:g.34805208_34805210del, NC_000021.8:g.34805209_34805210del, NC_000021.8:g.34805210del, NC_000021.8:g.34805210dup, NC_000021.8:g.34805209_34805210dup, NC_000021.8:g.34805208_34805210dup, NG_007570.2:g.52909_52912del, NG_007570.2:g.52910_52912del, NG_007570.2:g.52911_52912del, NG_007570.2:g.52912del, NG_007570.2:g.52912dup, NG_007570.2:g.52911_52912dup, NG_007570.2:g.52910_52912dup, NW_003315970.2:g.27472_27475del, NW_003315970.2:g.27473_27475del, NW_003315970.2:g.27474_27475del, NW_003315970.2:g.27475del, NW_003315970.2:g.27475dup, NW_003315970.2:g.27474_27475dup, NW_003315970.2:g.27473_27475dup, NW_003315970.1:g.27473_27476del, NW_003315970.1:g.27474_27476del, NW_003315970.1:g.27475_27476del, NW_003315970.1:g.27476del, NW_003315970.1:g.27476dup, NW_003315970.1:g.27475_27476dup, NW_003315970.1:g.27474_27476dup

Select item 14910671706.

rs1491067170 has merged into rs35814774 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 21:33473468 (GRCh38)
21:34845775 (GRCh37)
Canonical SPDI:: NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:33473457:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMEM50B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000021.9:g.33473468_33473478del, NC_000021.9:g.33473469_33473478del, NC_000021.9:g.33473470_33473478del, NC_000021.9:g.33473471_33473478del, NC_000021.9:g.33473472_33473478del, NC_000021.9:g.33473473_33473478del, NC_000021.9:g.33473474_33473478del, NC_000021.9:g.33473475_33473478del, NC_000021.9:g.33473476_33473478del, NC_000021.9:g.33473477_33473478del, NC_000021.9:g.33473478del, NC_000021.9:g.33473478dup, NC_000021.9:g.33473477_33473478dup, NC_000021.9:g.33473476_33473478dup, NC_000021.9:g.33473475_33473478dup, NC_000021.9:g.33473474_33473478dup, NC_000021.9:g.33473473_33473478dup, NC_000021.9:g.33473472_33473478dup, NC_000021.9:g.33473464_33473478dup, NC_000021.9:g.33473460_33473478dup, NC_000021.8:g.34845775_34845785del, NC_000021.8:g.34845776_34845785del, NC_000021.8:g.34845777_34845785del, NC_000021.8:g.34845778_34845785del, NC_000021.8:g.34845779_34845785del, NC_000021.8:g.34845780_34845785del, NC_000021.8:g.34845781_34845785del, NC_000021.8:g.34845782_34845785del, NC_000021.8:g.34845783_34845785del, NC_000021.8:g.34845784_34845785del, NC_000021.8:g.34845785del, NC_000021.8:g.34845785dup, NC_000021.8:g.34845784_34845785dup, NC_000021.8:g.34845783_34845785dup, NC_000021.8:g.34845782_34845785dup, NC_000021.8:g.34845781_34845785dup, NC_000021.8:g.34845780_34845785dup, NC_000021.8:g.34845779_34845785dup, NC_000021.8:g.34845771_34845785dup, NC_000021.8:g.34845767_34845785dup, NG_007570.2:g.93477_93487del, NG_007570.2:g.93478_93487del, NG_007570.2:g.93479_93487del, NG_007570.2:g.93480_93487del, NG_007570.2:g.93481_93487del, NG_007570.2:g.93482_93487del, NG_007570.2:g.93483_93487del, NG_007570.2:g.93484_93487del, NG_007570.2:g.93485_93487del, NG_007570.2:g.93486_93487del, NG_007570.2:g.93487del, NG_007570.2:g.93487dup, NG_007570.2:g.93486_93487dup, NG_007570.2:g.93485_93487dup, NG_007570.2:g.93484_93487dup, NG_007570.2:g.93483_93487dup, NG_007570.2:g.93482_93487dup, NG_007570.2:g.93481_93487dup, NG_007570.2:g.93473_93487dup, NG_007570.2:g.93469_93487dup, NW_003315970.2:g.68065dup, NW_003315970.2:g.68056_68065del, NW_003315970.2:g.68057_68065del, NW_003315970.2:g.68058_68065del, NW_003315970.2:g.68059_68065del, NW_003315970.2:g.68060_68065del, NW_003315970.2:g.68061_68065del, NW_003315970.2:g.68062_68065del, NW_003315970.2:g.68063_68065del, NW_003315970.2:g.68064_68065del, NW_003315970.2:g.68065del, NW_003315970.2:g.68064_68065dup, NW_003315970.2:g.68063_68065dup, NW_003315970.2:g.68062_68065dup, NW_003315970.2:g.68061_68065dup, NW_003315970.2:g.68060_68065dup, NW_003315970.2:g.68059_68065dup, NW_003315970.2:g.68058_68065dup, NW_003315970.2:g.68050_68065dup, NW_003315970.2:g.68046_68065dup, NW_003315970.1:g.68066dup, NW_003315970.1:g.68057_68066del, NW_003315970.1:g.68058_68066del, NW_003315970.1:g.68059_68066del, NW_003315970.1:g.68060_68066del, NW_003315970.1:g.68061_68066del, NW_003315970.1:g.68062_68066del, NW_003315970.1:g.68063_68066del, NW_003315970.1:g.68064_68066del, NW_003315970.1:g.68065_68066del, NW_003315970.1:g.68066del, NW_003315970.1:g.68065_68066dup, NW_003315970.1:g.68064_68066dup, NW_003315970.1:g.68063_68066dup, NW_003315970.1:g.68062_68066dup, NW_003315970.1:g.68061_68066dup, NW_003315970.1:g.68060_68066dup, NW_003315970.1:g.68059_68066dup, NW_003315970.1:g.68051_68066dup, NW_003315970.1:g.68047_68066dup

Select item 14910252107.

rs1491025210 has merged into rs3057402 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 21:33468077 (GRCh38)
21:34840384 (GRCh37)
Canonical SPDI:: NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:33468066:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMEM50B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
AAAAA=0.27476/1376 (1000Genomes)
HGVS:: NC_000021.9:g.33468077_33468082del, NC_000021.9:g.33468079_33468082del, NC_000021.9:g.33468080_33468082del, NC_000021.9:g.33468081_33468082del, NC_000021.9:g.33468082del, NC_000021.9:g.33468082dup, NC_000021.9:g.33468081_33468082dup, NC_000021.9:g.33468080_33468082dup, NC_000021.9:g.33468079_33468082dup, NC_000021.9:g.33468078_33468082dup, NC_000021.9:g.33468077_33468082dup, NC_000021.9:g.33468076_33468082dup, NC_000021.9:g.33468073_33468082dup, NC_000021.8:g.34840384_34840389del, NC_000021.8:g.34840386_34840389del, NC_000021.8:g.34840387_34840389del, NC_000021.8:g.34840388_34840389del, NC_000021.8:g.34840389del, NC_000021.8:g.34840389dup, NC_000021.8:g.34840388_34840389dup, NC_000021.8:g.34840387_34840389dup, NC_000021.8:g.34840386_34840389dup, NC_000021.8:g.34840385_34840389dup, NC_000021.8:g.34840384_34840389dup, NC_000021.8:g.34840383_34840389dup, NC_000021.8:g.34840380_34840389dup, NG_007570.2:g.88086_88091del, NG_007570.2:g.88088_88091del, NG_007570.2:g.88089_88091del, NG_007570.2:g.88090_88091del, NG_007570.2:g.88091del, NG_007570.2:g.88091dup, NG_007570.2:g.88090_88091dup, NG_007570.2:g.88089_88091dup, NG_007570.2:g.88088_88091dup, NG_007570.2:g.88087_88091dup, NG_007570.2:g.88086_88091dup, NG_007570.2:g.88085_88091dup, NG_007570.2:g.88082_88091dup, NW_003315970.2:g.62656_62661del, NW_003315970.2:g.62658_62661del, NW_003315970.2:g.62659_62661del, NW_003315970.2:g.62660_62661del, NW_003315970.2:g.62661del, NW_003315970.2:g.62661dup, NW_003315970.2:g.62660_62661dup, NW_003315970.2:g.62659_62661dup, NW_003315970.2:g.62658_62661dup, NW_003315970.2:g.62657_62661dup, NW_003315970.2:g.62656_62661dup, NW_003315970.2:g.62655_62661dup, NW_003315970.2:g.62652_62661dup, NW_003315970.1:g.62657_62662del, NW_003315970.1:g.62659_62662del, NW_003315970.1:g.62660_62662del, NW_003315970.1:g.62661_62662del, NW_003315970.1:g.62662del, NW_003315970.1:g.62662dup, NW_003315970.1:g.62661_62662dup, NW_003315970.1:g.62660_62662dup, NW_003315970.1:g.62659_62662dup, NW_003315970.1:g.62658_62662dup, NW_003315970.1:g.62657_62662dup, NW_003315970.1:g.62656_62662dup, NW_003315970.1:g.62653_62662dup

Select item 14910168588.

rs1491016858 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 21:33473670 (GRCh38)
21:34845977 (GRCh37)
Canonical SPDI:: NC_000021.9:33473668:ACA:A
Gene:: TMEM50B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000506/6 (ALFA)
-=0.000301/42 (GnomAD)
HGVS:: NC_000021.9:g.33473670_33473671del, NC_000021.8:g.34845977_34845978del, NG_007570.2:g.93679_93680del, NW_003315970.2:g.68258_68259del, NW_003315970.1:g.68259_68260del

Select item 14910135019.

rs1491013501 has merged into rs34801089 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 21:33447158 (GRCh38)
21:34819465 (GRCh37)
Canonical SPDI:: NC_000021.9:33447143:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:33447143:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:33447143:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000021.9:33447143:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000021.9:33447143:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000021.9:33447143:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: TMEM50B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.4/16 (GENOME_DK)
HGVS:: NC_000021.9:g.33447158_33447159del, NC_000021.9:g.33447159del, NC_000021.9:g.33447159dup, NC_000021.9:g.33447158_33447159dup, NC_000021.9:g.33447157_33447159dup, NC_000021.9:g.33447156_33447159dup, NC_000021.8:g.34819465_34819466del, NC_000021.8:g.34819466del, NC_000021.8:g.34819466dup, NC_000021.8:g.34819465_34819466dup, NC_000021.8:g.34819464_34819466dup, NC_000021.8:g.34819463_34819466dup, NG_007570.2:g.67167_67168del, NG_007570.2:g.67168del, NG_007570.2:g.67168dup, NG_007570.2:g.67167_67168dup, NG_007570.2:g.67166_67168dup, NG_007570.2:g.67165_67168dup, NW_003315970.2:g.41730_41731del, NW_003315970.2:g.41731del, NW_003315970.2:g.41731dup, NW_003315970.2:g.41730_41731dup, NW_003315970.2:g.41729_41731dup, NW_003315970.2:g.41728_41731dup, NW_003315970.1:g.41731_41732del, NW_003315970.1:g.41732del, NW_003315970.1:g.41732dup, NW_003315970.1:g.41731_41732dup, NW_003315970.1:g.41730_41732dup, NW_003315970.1:g.41729_41732dup

Select item 149098574610.

rs1490985746 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:33435537 (GRCh38)
21:34807844 (GRCh37)
Canonical SPDI:: NC_000021.9:33435536:C:T
Gene:: TMEM50B (Varview), IFNGR2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.33435537C>T, NC_000021.8:g.34807844C>T, NG_007570.2:g.55546C>T, NW_003315970.2:g.30109C>T, NW_003315970.1:g.30110C>T

Select item 149097027411.

rs1490970274 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:33437433 (GRCh38)
21:34809740 (GRCh37)
Canonical SPDI:: NC_000021.9:33437432:T:A
Gene:: TMEM50B (Varview), IFNGR2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000021.9:g.33437433T>A, NC_000021.8:g.34809740T>A, NG_007570.2:g.57442T>A, NM_005534.4:c.*471T>A, NM_005534.3:c.*471T>A, NM_001329128.2:c.*471T>A, NM_001329128.1:c.*471T>A, NW_003315970.2:g.32005T>A, NW_003315970.1:g.32006T>A

Select item 149091883812.

rs1490918838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:33432942 (GRCh38)
21:34805249 (GRCh37)
Canonical SPDI:: NC_000021.9:33432941:A:T
Gene:: TMEM50B (Varview), IFNGR2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000021.9:g.33432942A>T, NC_000021.8:g.34805249A>T, NG_007570.2:g.52951A>T, NW_003315970.2:g.27514A>T, NW_003315970.1:g.27515A>T

Select item 149088129413.

rs1490881294 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:33469289 (GRCh38)
21:34841596 (GRCh37)
Canonical SPDI:: NC_000021.9:33469288:A:G
Gene:: TMEM50B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.33469289A>G, NC_000021.8:g.34841596A>G, NG_007570.2:g.89298A>G, NW_003315970.2:g.63870A>G, NW_003315970.1:g.63871A>G

Select item 149083042414.

rs1490830424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:33438928 (GRCh38)
21:34811235 (GRCh37)
Canonical SPDI:: NC_000021.9:33438927:C:T
Gene:: TMEM50B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000021.9:g.33438928C>T, NC_000021.8:g.34811235C>T, NG_007570.2:g.58937C>T, NW_003315970.2:g.33500C>T, NW_003315970.1:g.33501C>T

Select item 149074604815.

rs1490746048 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 21:33452634 (GRCh38)
21:34824942 (GRCh37)
Canonical SPDI:: NC_000021.9:33452634:T:TT
Gene:: TMEM50B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.33452635dup, NC_000021.8:g.34824942dup, NG_007570.2:g.72644dup, NW_003315970.2:g.47207dup, NW_003315970.1:g.47208dup

Select item 149067239916.

rs1490672399 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:33460682 (GRCh38)
21:34832989 (GRCh37)
Canonical SPDI:: NC_000021.9:33460681:A:G
Gene:: TMEM50B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000021.9:g.33460682A>G, NC_000021.8:g.34832989A>G, NG_007570.2:g.80691A>G, NW_003315970.2:g.55254A>G, NW_003315970.1:g.55255A>G

Select item 149060227317.

rs1490602273 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:33461676 (GRCh38)
21:34833983 (GRCh37)
Canonical SPDI:: NC_000021.9:33461675:G:A
Gene:: TMEM50B (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_000021.9:g.33461676G>A, NC_000021.8:g.34833983G>A, NG_007570.2:g.81685G>A, NW_003315970.2:g.56248G>A, NW_003315970.1:g.56249G>A

Select item 149040120718.

rs1490401207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:33472194 (GRCh38)
21:34844501 (GRCh37)
Canonical SPDI:: NC_000021.9:33472193:C:T
Gene:: TMEM50B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000044/6 (GnomAD)
T=0.000248/7 (TOMMO)
HGVS:: NC_000021.9:g.33472194C>T, NC_000021.8:g.34844501C>T, NG_007570.2:g.92203C>T, NW_003315970.2:g.66781C>T, NW_003315970.1:g.66782C>T

Select item 149037869819.

rs1490378698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:33446068 (GRCh38)
21:34818375 (GRCh37)
Canonical SPDI:: NC_000021.9:33446067:C:T
Gene:: TMEM50B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.33446068C>T, NC_000021.8:g.34818375C>T, NG_007570.2:g.66077C>T, NW_003315970.2:g.40640C>T, NW_003315970.1:g.40641C>T

Select item 149036744620.

rs1490367446 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:33440599 (GRCh38)
21:34812906 (GRCh37)
Canonical SPDI:: NC_000021.9:33440598:T:C
Gene:: TMEM50B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000021.9:g.33440599T>C, NC_000021.8:g.34812906T>C, NG_007570.2:g.60608T>C, NW_003315970.2:g.35171T>C, NW_003315970.1:g.35172T>C

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