SNP Links for Gene (Select 83862) - SNP

Links from Gene

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Select item 14915681941.

rs1491568194 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GG,GGA,GGAGGGGGGG,GGAGGTTG,GGAGGTTGAGGGGGGGAGGGGGGGGGGGGGGG,GGAGGTTGAGGGGGGGAGGGGTGGAGGTGGGG,GGAGGTTGAGGGGGGGGGGGGTGGAGGGGGGGAGGGGAGGAGGGGTGGAGGTTGGGGGGGG,GGAGGTTGGGGGG,GGG,GGGGG,TG [Show Flanks]
Chromosome:: 7:75989117 (GRCh38)
7:75618436 (GRCh37)
Canonical SPDI:: NC_000007.14:75989117::G,NC_000007.14:75989117::GG,NC_000007.14:75989117::GGA,NC_000007.14:75989117::GGAGGGGGGG,NC_000007.14:75989117::GGAGGTTG,NC_000007.14:75989117::GGAGGTTGAGGGGGGGAGGGGGGGGGGGGGGG,NC_000007.14:75989117::GGAGGTTGAGGGGGGGAGGGGTGGAGGTGGGG,NC_000007.14:75989117::GGAGGTTGAGGGGGGGGGGGGTGGAGGGGGGGAGGGGAGGAGGGGTGGAGGTTGGGGGGGG,NC_000007.14:75989117::GGAGGTTGGGGGG,NC_000007.14:75989117::GGG,NC_000007.14:75989117::GGGGG,NC_000007.14:75989117::TG
Gene:: TMEM120A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGAGGTTG=0./0 (ALFA)
HGVS:: NC_000007.14:g.75989117_75989118insG, NC_000007.14:g.75989117_75989118insGG, NC_000007.14:g.75989117_75989118insGGA, NC_000007.14:g.75989117_75989118insGGAGGGGGGG, NC_000007.14:g.75989117_75989118insGGAGGTTG, NC_000007.14:g.75989117_75989118insGGAGGTTGAGGGGGGGAGGGGGGGGGGGGGGG, NC_000007.14:g.75989117_75989118insGGAGGTTGAGGGGGGGAGGGGTGGAGGTGGGG, NC_000007.14:g.75989117_75989118insGGAGGTTGAGGGGGGGGGGGGTGGAGGGGGGGAGGGGAGGAGGGGTGGAGGTTGGGGGGGG, NC_000007.14:g.75989117_75989118insGGAGGTTGGGGGG, NC_000007.14:g.75989117_75989118insGGG, NC_000007.14:g.75989117_75989118insGGGGG, NC_000007.14:g.75989117_75989118insTG, NC_000007.13:g.75618435_75618436insG, NC_000007.13:g.75618435_75618436insGG, NC_000007.13:g.75618435_75618436insGGA, NC_000007.13:g.75618435_75618436insGGAGGGGGGG, NC_000007.13:g.75618435_75618436insGGAGGTTG, NC_000007.13:g.75618435_75618436insGGAGGTTGAGGGGGGGAGGGGGGGGGGGGGGG, NC_000007.13:g.75618435_75618436insGGAGGTTGAGGGGGGGAGGGGTGGAGGTGGGG, NC_000007.13:g.75618435_75618436insGGAGGTTGAGGGGGGGGGGGGTGGAGGGGGGGAGGGGAGGAGGGGTGGAGGTTGGGGGGGG, NC_000007.13:g.75618435_75618436insGGAGGTTGGGGGG, NC_000007.13:g.75618435_75618436insGGG, NC_000007.13:g.75618435_75618436insGGGGG, NC_000007.13:g.75618435_75618436insTG, NW_003871064.1:g.3518353_3518354insG, NW_003871064.1:g.3518353_3518354insGG, NW_003871064.1:g.3518353_3518354insGGA, NW_003871064.1:g.3518353_3518354insGGAGGGGGGG, NW_003871064.1:g.3518353_3518354insGGAGGTTG, NW_003871064.1:g.3518353_3518354insGGAGGTTGAGGGGGGGAGGGGGGGGGGGGGGG, NW_003871064.1:g.3518353_3518354insGGAGGTTGAGGGGGGGAGGGGTGGAGGTGGGG, NW_003871064.1:g.3518353_3518354insGGAGGTTGAGGGGGGGGGGGGTGGAGGGGGGGAGGGGAGGAGGGGTGGAGGTTGGGGGGGG, NW_003871064.1:g.3518353_3518354insGGAGGTTGGGGGG, NW_003871064.1:g.3518353_3518354insGGG, NW_003871064.1:g.3518353_3518354insGGGGG, NW_003871064.1:g.3518353_3518354insTG

Select item 14913059612.

rs1491305961 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:75990897 (GRCh38)
7:75620215 (GRCh37)
Canonical SPDI:: NC_000007.14:75990896:CA:
Gene:: TMEM120A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00059/7 (ALFA)
HGVS:: NC_000007.14:g.75990897_75990898del, NC_000007.13:g.75620215_75620216del, NW_003871064.1:g.3520133_3520134del

Select item 14910806183.

rs1491080618 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAT [Show Flanks]
Chromosome:: 7:75987081 (GRCh38)
7:75616400 (GRCh37)
Canonical SPDI:: NC_000007.14:75987081:TGAT:TGATGAT
Gene:: POR (Varview), TMEM120A (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,inframe_insertion,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGATGAT=0.000071/1 (ALFA)
TGA=0.000007/1 (GnomAD)
TGA=0.000023/6 (TOPMED)
HGVS:: NC_000007.14:g.75987083_75987085dup, NC_000007.13:g.75616401_75616403dup, NG_008930.1:g.76982_76984dup, NW_003871064.1:g.3516319_3516321dup, NM_031925.3:c.*88_*90dup, NM_031925.2:c.*88_*90dup, NM_001363462.2:c.*246_*248dup, NM_001363462.1:c.*246_*248dup, NM_001317803.2:c.1058_1060dup, NM_001317803.1:c.1058_1060dup, NR_156695.2:n.1080_1082dup, NR_156695.1:n.1080_1082dup, XM_047420919.1:c.*184_*186dup, NP_001304732.1:p.Ile353dup

Select item 14909081214.

rs1490908121 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:75996614 (GRCh38)
7:75625932 (GRCh37)
Canonical SPDI:: NC_000007.14:75996613:A:T
Gene:: STYXL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.75996614A>T, NC_000007.13:g.75625932A>T, NW_003871064.1:g.3525850A>T

Select item 14908380585.

rs1490838058 has merged into rs782090391 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:75990906 (GRCh38)
7:75620224 (GRCh37)
Canonical SPDI:: NC_000007.14:75990897:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:75990897:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:75990897:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:75990897:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:75990897:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:75990897:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:75990897:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:75990897:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:75990897:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:75990897:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:75990897:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:75990897:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75990897:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75990897:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75990897:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75990897:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75990897:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75990897:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75990897:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMEM120A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000007.14:g.75990906_75990920del, NC_000007.14:g.75990908_75990920del, NC_000007.14:g.75990910_75990920del, NC_000007.14:g.75990911_75990920del, NC_000007.14:g.75990912_75990920del, NC_000007.14:g.75990913_75990920del, NC_000007.14:g.75990914_75990920del, NC_000007.14:g.75990915_75990920del, NC_000007.14:g.75990916_75990920del, NC_000007.14:g.75990917_75990920del, NC_000007.14:g.75990918_75990920del, NC_000007.14:g.75990919_75990920del, NC_000007.14:g.75990920del, NC_000007.14:g.75990920dup, NC_000007.14:g.75990919_75990920dup, NC_000007.14:g.75990918_75990920dup, NC_000007.14:g.75990917_75990920dup, NC_000007.14:g.75990916_75990920dup, NC_000007.14:g.75990913_75990920dup, NC_000007.13:g.75620224_75620238del, NC_000007.13:g.75620226_75620238del, NC_000007.13:g.75620228_75620238del, NC_000007.13:g.75620229_75620238del, NC_000007.13:g.75620230_75620238del, NC_000007.13:g.75620231_75620238del, NC_000007.13:g.75620232_75620238del, NC_000007.13:g.75620233_75620238del, NC_000007.13:g.75620234_75620238del, NC_000007.13:g.75620235_75620238del, NC_000007.13:g.75620236_75620238del, NC_000007.13:g.75620237_75620238del, NC_000007.13:g.75620238del, NC_000007.13:g.75620238dup, NC_000007.13:g.75620237_75620238dup, NC_000007.13:g.75620236_75620238dup, NC_000007.13:g.75620235_75620238dup, NC_000007.13:g.75620234_75620238dup, NC_000007.13:g.75620231_75620238dup, NW_003871064.1:g.3520142_3520156del, NW_003871064.1:g.3520144_3520156del, NW_003871064.1:g.3520146_3520156del, NW_003871064.1:g.3520147_3520156del, NW_003871064.1:g.3520148_3520156del, NW_003871064.1:g.3520149_3520156del, NW_003871064.1:g.3520150_3520156del, NW_003871064.1:g.3520151_3520156del, NW_003871064.1:g.3520152_3520156del, NW_003871064.1:g.3520153_3520156del, NW_003871064.1:g.3520154_3520156del, NW_003871064.1:g.3520155_3520156del, NW_003871064.1:g.3520156del, NW_003871064.1:g.3520156dup, NW_003871064.1:g.3520155_3520156dup, NW_003871064.1:g.3520154_3520156dup, NW_003871064.1:g.3520153_3520156dup, NW_003871064.1:g.3520152_3520156dup, NW_003871064.1:g.3520149_3520156dup

Select item 14907002946.

rs1490700294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:75990102 (GRCh38)
7:75619420 (GRCh37)
Canonical SPDI:: NC_000007.14:75990101:C:T
Gene:: TMEM120A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000285/4 (ALFA)
T=0.000064/17 (TOPMED)
T=0.000071/10 (GnomAD)
T=0.000071/2 (TOMMO)
HGVS:: NC_000007.14:g.75990102C>T, NC_000007.13:g.75619420C>T, NW_003871064.1:g.3519338C>T

Select item 14904703207.

rs1490470320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:75995167 (GRCh38)
7:75624485 (GRCh37)
Canonical SPDI:: NC_000007.14:75995166:C:A
Gene:: TMEM120A (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_000007.14:g.75995167C>A, NC_000007.13:g.75624485C>A, NW_003871064.1:g.3524403C>A

Select item 14904453358.

rs1490445335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:75996252 (GRCh38)
7:75625570 (GRCh37)
Canonical SPDI:: NC_000007.14:75996251:G:C
Gene:: STYXL1 (Varview), TMEM120A (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000083/22 (TOPMED)
HGVS:: NC_000007.14:g.75996252G>C, NC_000007.13:g.75625570G>C, NW_003871064.1:g.3525488G>C

Select item 14898875469.

rs1489887546 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 7:75990479 (GRCh38)
7:75619797 (GRCh37)
Canonical SPDI:: NC_000007.14:75990478:TT:T
Gene:: TMEM120A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.75990480del, NC_000007.13:g.75619798del, NW_003871064.1:g.3519716del

Select item 148986205710.

rs1489862057 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTCC [Show Flanks]
Chromosome:: 7:75991344 (GRCh38)
7:75620663 (GRCh37)
Canonical SPDI:: NC_000007.14:75991344:CCGTCC:CCGTCCGTCC
Gene:: TMEM120A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCGTCCGTCC=0.000071/1 (ALFA)
CCGT=0.000019/5 (TOPMED)
CCGT=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.75991347_75991350dup, NC_000007.13:g.75620665_75620668dup, NG_078362.1:g.417_420dup, NW_003871064.1:g.3520583_3520586dup

Select item 148976285911.

rs1489762859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:75994770 (GRCh38)
7:75624088 (GRCh37)
Canonical SPDI:: NC_000007.14:75994769:C:A
Gene:: TMEM120A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.75994770C>A, NC_000007.13:g.75624088C>A, NW_003871064.1:g.3524006C>A

Select item 148971065212.

rs1489710652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:75995703 (GRCh38)
7:75625021 (GRCh37)
Canonical SPDI:: NC_000007.14:75995702:G:A
Gene:: TMEM120A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000007.14:g.75995703G>A, NC_000007.13:g.75625021G>A, NW_003871064.1:g.3524939G>A

Select item 148913171413.

rs1489131714 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCCCACCCCC>-,TCCCACCCCCTCCCACCCCC,TCCCACCCCCTCCCACCCCCTCCCACCCCC [Show Flanks]
Chromosome:: 7:75995285 (GRCh38)
7:75624603 (GRCh37)
Canonical SPDI:: NC_000007.14:75995275:CCCACCCCCTCCCACCCCC:CCCACCCCC,NC_000007.14:75995275:CCCACCCCCTCCCACCCCC:CCCACCCCCTCCCACCCCCTCCCACCCCC,NC_000007.14:75995275:CCCACCCCCTCCCACCCCC:CCCACCCCCTCCCACCCCCTCCCACCCCCTCCCACCCCC
Gene:: TMEM120A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCACCCCCTCCCACCCCCTCCCACCCCC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.75995285_75995294del, NC_000007.14:g.75995285_75995294dup, NC_000007.14:g.75995285TCCCACCCCC[3], NC_000007.13:g.75624603_75624612del, NC_000007.13:g.75624603_75624612dup, NC_000007.13:g.75624603TCCCACCCCC[3], NW_003871064.1:g.3524521_3524530del, NW_003871064.1:g.3524521_3524530dup, NW_003871064.1:g.3524521TCCCACCCCC[3]

Select item 148876967114.

rs1488769671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:75988914 (GRCh38)
7:75618232 (GRCh37)
Canonical SPDI:: NC_000007.14:75988913:G:A,NC_000007.14:75988913:G:C
Gene:: TMEM120A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.75988914G>A, NC_000007.14:g.75988914G>C, NC_000007.13:g.75618232G>A, NC_000007.13:g.75618232G>C, NW_003871064.1:g.3518150G>A, NW_003871064.1:g.3518150G>C

Select item 148871959515.

rs1488719595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:75989124 (GRCh38)
7:75618442 (GRCh37)
Canonical SPDI:: NC_000007.14:75989123:G:A
Gene:: TMEM120A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.75989124G>A, NC_000007.13:g.75618442G>A, NW_003871064.1:g.3518360G>A

Select item 148854824316.

rs1488548243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:75994041 (GRCh38)
7:75623359 (GRCh37)
Canonical SPDI:: NC_000007.14:75994040:G:A
Gene:: TMEM120A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.75994041G>A, NC_000007.13:g.75623359G>A, NW_003871064.1:g.3523277G>A

Select item 148849694717.

rs1488496947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:75994658 (GRCh38)
7:75623976 (GRCh37)
Canonical SPDI:: NC_000007.14:75994657:C:A,NC_000007.14:75994657:C:T
Gene:: TMEM120A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.75994658C>A, NC_000007.14:g.75994658C>T, NC_000007.13:g.75623976C>A, NC_000007.13:g.75623976C>T, NW_003871064.1:g.3523894C>A, NW_003871064.1:g.3523894C>T, NM_031925.2:c.-88G>T, NM_031925.2:c.-88G>A, NM_001317803.1:c.-88G>T, NM_001317803.1:c.-88G>A

Select item 148810968018.

rs1488109680 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G,GG,GGAGGGGTGGAGGTTGAGGGGGGGAGGGGTGGAGGGGGGG [Show Flanks]
Chromosome:: 7:75989110 (GRCh38)
7:75618429 (GRCh37)
Canonical SPDI:: NC_000007.14:75989110:GGGGG:GGGGGG,NC_000007.14:75989110:GGGGG:GGGGGGG,NC_000007.14:75989110:GGGGG:GGGGGGGAGGGGTGGAGGTTGAGGGGGGGAGGGGTGGAGGGGGGG
Gene:: TMEM120A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0.00034/4 (ALFA)
GGGGGGGAGGGGTGGAGGTTGAGGGGGGGAGGGGTGGAGG=0.00016/1 (TOMMO)
HGVS:: NC_000007.14:g.75989115dup, NC_000007.14:g.75989114_75989115dup, NC_000007.14:g.75989111_75989115G[7]AGGGGTGGAGGTTGAGGGGGGGAGGGGTGGAGGGGGGG[1], NC_000007.13:g.75618433dup, NC_000007.13:g.75618432_75618433dup, NC_000007.13:g.75618429_75618433G[7]AGGGGTGGAGGTTGAGGGGGGGAGGGGTGGAGGGGGGG[1], NW_003871064.1:g.3518351dup, NW_003871064.1:g.3518350_3518351dup, NW_003871064.1:g.3518347_3518351G[7]AGGGGTGGAGGTTGAGGGGGGGAGGGGTGGAGGGGGGG[1]

Select item 148766590419.

rs1487665904 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:75989627 (GRCh38)
7:75618945 (GRCh37)
Canonical SPDI:: NC_000007.14:75989626:T:C
Gene:: TMEM120A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.75989627T>C, NC_000007.13:g.75618945T>C, NW_003871064.1:g.3518863T>C

Select item 148749604920.

rs1487496049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:75995800 (GRCh38)
7:75625118 (GRCh37)
Canonical SPDI:: NC_000007.14:75995799:C:G
Gene:: TMEM120A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.75995800C>G, NC_000007.13:g.75625118C>G, NW_003871064.1:g.3525036C>G

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