SNP Links for Gene (Select 159686) - SNP

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Select item 14915330051.

rs1491533005 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TA,TATA,TATATATA [Show Flanks]
Chromosome:: 10:104357820 (GRCh38)
10:106117578 (GRCh37)
Canonical SPDI:: NC_000010.11:104357818:ATATATA:A,NC_000010.11:104357818:ATATATA:ATA,NC_000010.11:104357818:ATATATA:ATATA,NC_000010.11:104357818:ATATATA:ATATATATA
Gene:: CFAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATA=0./0 (ALFA)
HGVS:: NC_000010.11:g.104357820_104357825del, NC_000010.11:g.104357820TA[1], NC_000010.11:g.104357820TA[2], NC_000010.11:g.104357820TA[4], NC_000010.10:g.106117578_106117583del, NC_000010.10:g.106117578TA[1], NC_000010.10:g.106117578TA[2], NC_000010.10:g.106117578TA[4]

Select item 14915300752.

rs1491530075 has merged into rs755984146 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TA,TATA,TATATATA [Show Flanks]
Chromosome:: 10:104357862 (GRCh38)
10:106117620 (GRCh37)
Canonical SPDI:: NC_000010.11:104357860:ATATATA:A,NC_000010.11:104357860:ATATATA:ATA,NC_000010.11:104357860:ATATATA:ATATA,NC_000010.11:104357860:ATATATA:ATATATATA
Gene:: CFAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
AT=0.000004/1 (TOPMED)
-=0.00085/14 (TOMMO)
-=0.001093/2 (Korea1K)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000010.11:g.104357862_104357867del, NC_000010.11:g.104357862TA[1], NC_000010.11:g.104357862TA[2], NC_000010.11:g.104357862TA[4], NC_000010.10:g.106117620_106117625del, NC_000010.10:g.106117620TA[1], NC_000010.10:g.106117620TA[2], NC_000010.10:g.106117620TA[4]

Select item 14915104223.

rs1491510422 has merged into rs66462966 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:104420762 (GRCh38)
10:106180520 (GRCh37)
Canonical SPDI:: NC_000010.11:104420751:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:104420751:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:104420751:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:104420751:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:104420751:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:104420751:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:104420751:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:104420751:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:104420751:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:104420751:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:104420751:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:104420751:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:104420751:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:104420751:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:104420751:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:104420751:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:104420751:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:104420751:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:104420751:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CFAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3742/1874 (1000Genomes)
HGVS:: NC_000010.11:g.104420762_104420770del, NC_000010.11:g.104420766_104420770del, NC_000010.11:g.104420767_104420770del, NC_000010.11:g.104420768_104420770del, NC_000010.11:g.104420769_104420770del, NC_000010.11:g.104420770del, NC_000010.11:g.104420770dup, NC_000010.11:g.104420769_104420770dup, NC_000010.11:g.104420768_104420770dup, NC_000010.11:g.104420767_104420770dup, NC_000010.11:g.104420766_104420770dup, NC_000010.11:g.104420764_104420770dup, NC_000010.11:g.104420763_104420770dup, NC_000010.11:g.104420761_104420770dup, NC_000010.11:g.104420756_104420770dup, NC_000010.11:g.104420755_104420770dup, NC_000010.11:g.104420754_104420770dup, NC_000010.11:g.104420770_104420771insTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.104420770_104420771insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.106180520_106180528del, NC_000010.10:g.106180524_106180528del, NC_000010.10:g.106180525_106180528del, NC_000010.10:g.106180526_106180528del, NC_000010.10:g.106180527_106180528del, NC_000010.10:g.106180528del, NC_000010.10:g.106180528dup, NC_000010.10:g.106180527_106180528dup, NC_000010.10:g.106180526_106180528dup, NC_000010.10:g.106180525_106180528dup, NC_000010.10:g.106180524_106180528dup, NC_000010.10:g.106180522_106180528dup, NC_000010.10:g.106180521_106180528dup, NC_000010.10:g.106180519_106180528dup, NC_000010.10:g.106180514_106180528dup, NC_000010.10:g.106180513_106180528dup, NC_000010.10:g.106180512_106180528dup, NC_000010.10:g.106180528_106180529insTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.106180528_106180529insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914943304.

rs1491494330 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 10:104364427 (GRCh38)
10:106124185 (GRCh37)
Canonical SPDI:: NC_000010.11:104364424:AAAA:AA
Gene:: CFAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0.000084/1 (ALFA)
-=0.00005/5 (GnomAD)
HGVS:: NC_000010.11:g.104364427_104364428del, NC_000010.10:g.106124185_106124186del

Select item 14914874155.

rs1491487415 has merged into rs35611566 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 10:104399194 (GRCh38)
10:106158952 (GRCh37)
Canonical SPDI:: NC_000010.11:104399175:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000010.11:104399175:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000010.11:104399175:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:104399175:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:104399175:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:104399175:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:104399175:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:104399175:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:104399175:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:104399175:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: CFAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000010.11:g.104399176GT[9], NC_000010.11:g.104399176GT[10], NC_000010.11:g.104399176GT[11], NC_000010.11:g.104399176GT[12], NC_000010.11:g.104399176GT[14], NC_000010.11:g.104399176GT[15], NC_000010.11:g.104399176GT[16], NC_000010.11:g.104399176GT[17], NC_000010.11:g.104399176GT[18], NC_000010.11:g.104399176GT[19], NC_000010.10:g.106158934GT[9], NC_000010.10:g.106158934GT[10], NC_000010.10:g.106158934GT[11], NC_000010.10:g.106158934GT[12], NC_000010.10:g.106158934GT[14], NC_000010.10:g.106158934GT[15], NC_000010.10:g.106158934GT[16], NC_000010.10:g.106158934GT[17], NC_000010.10:g.106158934GT[18], NC_000010.10:g.106158934GT[19]

Select item 14914854906.

rs1491485490 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 10:104438374 (GRCh38)
10:106198132 (GRCh37)
Canonical SPDI:: NC_000010.11:104438372:TGT:T
Gene:: CFAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000115/2 (TOMMO)
-=0.001902/216 (GnomAD)
-=0.002212/4 (Korea1K)
HGVS:: NC_000010.11:g.104438374_104438375del, NC_000010.10:g.106198132_106198133del

Select item 14914681407.

rs1491468140 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG [Show Flanks]
Chromosome:: 10:104357801 (GRCh38)
10:106117560 (GRCh37)
Canonical SPDI:: NC_000010.11:104357801::TG
Gene:: CFAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TG=0./0 (ALFA)
TG=0.000008/1 (GnomAD)
HGVS:: NC_000010.11:g.104357801_104357802insTG, NC_000010.10:g.106117559_106117560insTG

Select item 14914589388.

rs1491458938 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:104386062 (GRCh38)
10:106145821 (GRCh37)
Canonical SPDI:: NC_000010.11:104386062::A
Gene:: CFAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000010.11:g.104386062_104386063insA, NC_000010.10:g.106145820_106145821insA

Select item 14914570839.

rs1491457083 has merged into rs71022729 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA [Show Flanks]
Chromosome:: 10:104357858 (GRCh38)
10:106117616 (GRCh37)
Canonical SPDI:: NC_000010.11:104357856:ACACA:A,NC_000010.11:104357856:ACACA:ACA,NC_000010.11:104357856:ACACA:ACACACA
Gene:: CFAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0.00195/22 (ALFA)
-=0.00477/78 (TOMMO)
-=0.05263/28 (NorthernSweden)
HGVS:: NC_000010.11:g.104357858_104357861del, NC_000010.11:g.104357858CA[1], NC_000010.11:g.104357858CA[3], NC_000010.10:g.106117616_106117619del, NC_000010.10:g.106117616CA[1], NC_000010.10:g.106117616CA[3]

Select item 149139343210.

rs1491393432 has merged into rs56074829 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:104374855 (GRCh38)
10:106134613 (GRCh37)
Canonical SPDI:: NC_000010.11:104374846:AAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:104374846:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:104374846:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:104374846:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:104374846:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:104374846:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:104374846:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:104374846:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:104374846:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:104374846:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:104374846:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:104374846:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:104374846:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:104374846:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CFAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.262325/1011 (ALSPAC)
-=0.283981/1053 (TWINSUK)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000010.11:g.104374855_104374861del, NC_000010.11:g.104374856_104374861del, NC_000010.11:g.104374858_104374861del, NC_000010.11:g.104374859_104374861del, NC_000010.11:g.104374860_104374861del, NC_000010.11:g.104374861del, NC_000010.11:g.104374861dup, NC_000010.11:g.104374860_104374861dup, NC_000010.11:g.104374859_104374861dup, NC_000010.11:g.104374858_104374861dup, NC_000010.11:g.104374857_104374861dup, NC_000010.11:g.104374856_104374861dup, NC_000010.11:g.104374853_104374861dup, NC_000010.11:g.104374852_104374861dup, NC_000010.10:g.106134613_106134619del, NC_000010.10:g.106134614_106134619del, NC_000010.10:g.106134616_106134619del, NC_000010.10:g.106134617_106134619del, NC_000010.10:g.106134618_106134619del, NC_000010.10:g.106134619del, NC_000010.10:g.106134619dup, NC_000010.10:g.106134618_106134619dup, NC_000010.10:g.106134617_106134619dup, NC_000010.10:g.106134616_106134619dup, NC_000010.10:g.106134615_106134619dup, NC_000010.10:g.106134614_106134619dup, NC_000010.10:g.106134611_106134619dup, NC_000010.10:g.106134610_106134619dup

Select item 149138047111.

rs1491380471 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:104342463 (GRCh38)
10:106102221 (GRCh37)
Canonical SPDI:: NC_000010.11:104342462:AT:
Gene:: CFAP58 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000010.11:g.104342463_104342464del, NC_000010.10:g.106102221_106102222del

Select item 149137937412.

rs1491379374 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA,CACA,CACACA [Show Flanks]
Chromosome:: 10:104364425 (GRCh38)
10:106124184 (GRCh37)
Canonical SPDI:: NC_000010.11:104364425:A:ACA,NC_000010.11:104364425:A:ACACA,NC_000010.11:104364425:A:ACACACA
Gene:: CFAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACACA=0./0 (ALFA)
ACAC=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.104364426_104364427insCA, NC_000010.11:g.104364426_104364427insCACA, NC_000010.11:g.104364427CA[3], NC_000010.10:g.106124184_106124185insCA, NC_000010.10:g.106124184_106124185insCACA, NC_000010.10:g.106124185CA[3]

Select item 149137630413.

rs1491376304 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:104413707 (GRCh38)
10:106173465 (GRCh37)
Canonical SPDI:: NC_000010.11:104413705:ACA:A
Gene:: CFAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000156/1 (1000Genomes)
-=0.000278/33 (GnomAD)
HGVS:: NC_000010.11:g.104413707_104413708del, NC_000010.10:g.106173465_106173466del

Select item 149135314214.

rs1491353142 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 10:104352521 (GRCh38)
10:106112279 (GRCh37)
Canonical SPDI:: NC_000010.11:104352516:AGAGAG:AGAG
Gene:: CFAP58 (Varview), CFAP58-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.104352517AG[2], NC_000010.10:g.106112275AG[2]

Select item 149133870815.

rs1491338708 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:104420751 (GRCh38)
10:106180509 (GRCh37)
Canonical SPDI:: NC_000010.11:104420750:AT:
Gene:: CFAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000010.11:g.104420751_104420752del, NC_000010.10:g.106180509_106180510del

Select item 149133664116.

rs1491336641 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:104396439 (GRCh38)
10:106156198 (GRCh37)
Canonical SPDI:: NC_000010.11:104396439::G
Gene:: CFAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00188/31 (TOMMO)
HGVS:: NC_000010.11:g.104396439_104396440insG, NC_000010.10:g.106156197_106156198insG

Select item 149130844217.

rs1491308442 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:104438373 (GRCh38)
10:106198132 (GRCh37)
Canonical SPDI:: NC_000010.11:104438373:G:GG
Gene:: CFAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000054/6 (GnomAD)
G=0.003893/7 (Korea1K)
G=0.018384/304 (TOMMO)
HGVS:: NC_000010.11:g.104438374dup, NC_000010.10:g.106198132dup

Select item 149126578818.

rs1491265788 [Homo sapiens]

Variant type:: INS
Alleles:: ->CG [Show Flanks]
Chromosome:: 10:104357819 (GRCh38)
10:106117578 (GRCh37)
Canonical SPDI:: NC_000010.11:104357819::CG
Gene:: CFAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CG=0.000084/1 (ALFA)
CG=0.000022/3 (GnomAD)
HGVS:: NC_000010.11:g.104357819_104357820insCG, NC_000010.10:g.106117577_106117578insCG

Select item 149116777819.

rs1491167778 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 10:104396440 (GRCh38)
10:106156198 (GRCh37)
Canonical SPDI:: NC_000010.11:104396438:AAA:A
Gene:: CFAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00173/29 (TOMMO)
HGVS:: NC_000010.11:g.104396440_104396441del, NC_000010.10:g.106156198_106156199del

Select item 149111447720.

rs1491114477 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACTC [Show Flanks]
Chromosome:: 10:104364470 (GRCh38)
10:106124229 (GRCh37)
Canonical SPDI:: NC_000010.11:104364470:C:CACTC
Gene:: CFAP58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACTC=0./0 (ALFA)
CACT=0.000032/4 (GnomAD)
HGVS:: NC_000010.11:g.104364471_104364472insACTC, NC_000010.10:g.106124229_106124230insACTC

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