SNP Links for Gene (Select 473) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915886731.

rs1491588673 has merged into rs34276909 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:8638795 (GRCh38)
1:8698854 (GRCh37)
Canonical SPDI:: NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8638783:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RERE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.8638795_8638808del, NC_000001.11:g.8638796_8638808del, NC_000001.11:g.8638797_8638808del, NC_000001.11:g.8638799_8638808del, NC_000001.11:g.8638800_8638808del, NC_000001.11:g.8638801_8638808del, NC_000001.11:g.8638803_8638808del, NC_000001.11:g.8638804_8638808del, NC_000001.11:g.8638805_8638808del, NC_000001.11:g.8638806_8638808del, NC_000001.11:g.8638807_8638808del, NC_000001.11:g.8638808del, NC_000001.11:g.8638808dup, NC_000001.11:g.8638807_8638808dup, NC_000001.11:g.8638806_8638808dup, NC_000001.11:g.8638805_8638808dup, NC_000001.11:g.8638804_8638808dup, NC_000001.11:g.8638803_8638808dup, NC_000001.11:g.8638802_8638808dup, NC_000001.11:g.8638801_8638808dup, NC_000001.11:g.8638800_8638808dup, NC_000001.11:g.8638799_8638808dup, NC_000001.11:g.8638798_8638808dup, NC_000001.11:g.8638797_8638808dup, NC_000001.11:g.8638796_8638808dup, NC_000001.11:g.8638795_8638808dup, NC_000001.11:g.8638794_8638808dup, NC_000001.11:g.8638792_8638808dup, NC_000001.11:g.8638791_8638808dup, NC_000001.11:g.8638790_8638808dup, NC_000001.11:g.8638788_8638808dup, NC_000001.11:g.8638785_8638808dup, NC_000001.11:g.8638784_8638808dup, NC_000001.11:g.8638808_8638809insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.8638808_8638809insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.8638808_8638809insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.8638808_8638809insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.8698854_8698867del, NC_000001.10:g.8698855_8698867del, NC_000001.10:g.8698856_8698867del, NC_000001.10:g.8698858_8698867del, NC_000001.10:g.8698859_8698867del, NC_000001.10:g.8698860_8698867del, NC_000001.10:g.8698862_8698867del, NC_000001.10:g.8698863_8698867del, NC_000001.10:g.8698864_8698867del, NC_000001.10:g.8698865_8698867del, NC_000001.10:g.8698866_8698867del, NC_000001.10:g.8698867del, NC_000001.10:g.8698867dup, NC_000001.10:g.8698866_8698867dup, NC_000001.10:g.8698865_8698867dup, NC_000001.10:g.8698864_8698867dup, NC_000001.10:g.8698863_8698867dup, NC_000001.10:g.8698862_8698867dup, NC_000001.10:g.8698861_8698867dup, NC_000001.10:g.8698860_8698867dup, NC_000001.10:g.8698859_8698867dup, NC_000001.10:g.8698858_8698867dup, NC_000001.10:g.8698857_8698867dup, NC_000001.10:g.8698856_8698867dup, NC_000001.10:g.8698855_8698867dup, NC_000001.10:g.8698854_8698867dup, NC_000001.10:g.8698853_8698867dup, NC_000001.10:g.8698851_8698867dup, NC_000001.10:g.8698850_8698867dup, NC_000001.10:g.8698849_8698867dup, NC_000001.10:g.8698847_8698867dup, NC_000001.10:g.8698844_8698867dup, NC_000001.10:g.8698843_8698867dup, NC_000001.10:g.8698867_8698868insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.8698867_8698868insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.8698867_8698868insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.8698867_8698868insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047035.1:g.183895_183908del, NG_047035.1:g.183896_183908del, NG_047035.1:g.183897_183908del, NG_047035.1:g.183899_183908del, NG_047035.1:g.183900_183908del, NG_047035.1:g.183901_183908del, NG_047035.1:g.183903_183908del, NG_047035.1:g.183904_183908del, NG_047035.1:g.183905_183908del, NG_047035.1:g.183906_183908del, NG_047035.1:g.183907_183908del, NG_047035.1:g.183908del, NG_047035.1:g.183908dup, NG_047035.1:g.183907_183908dup, NG_047035.1:g.183906_183908dup, NG_047035.1:g.183905_183908dup, NG_047035.1:g.183904_183908dup, NG_047035.1:g.183903_183908dup, NG_047035.1:g.183902_183908dup, NG_047035.1:g.183901_183908dup, NG_047035.1:g.183900_183908dup, NG_047035.1:g.183899_183908dup, NG_047035.1:g.183898_183908dup, NG_047035.1:g.183897_183908dup, NG_047035.1:g.183896_183908dup, NG_047035.1:g.183895_183908dup, NG_047035.1:g.183894_183908dup, NG_047035.1:g.183892_183908dup, NG_047035.1:g.183891_183908dup, NG_047035.1:g.183890_183908dup, NG_047035.1:g.183888_183908dup, NG_047035.1:g.183885_183908dup, NG_047035.1:g.183884_183908dup, NG_047035.1:g.183908_183909insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047035.1:g.183908_183909insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047035.1:g.183908_183909insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047035.1:g.183908_183909insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915841472.

rs1491584147 has merged into rs1235456516 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 1:8564832 (GRCh38)
1:8624891 (GRCh37)
Canonical SPDI:: NC_000001.11:8564830:TAT:T,NC_000001.11:8564830:TAT:TATAT
Gene:: RERE (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATAT=0./0 (ALFA)
-=0.00677/108 (TOMMO)
-=0.01292/7 (NorthernSweden)
-=0.01414/25 (Korea1K)
TA=0.46166/2312 (1000Genomes)
TA=0.49325/1901 (ALSPAC)
TA=0.49622/1840 (TWINSUK)
HGVS:: NC_000001.11:g.8564832_8564833del, NC_000001.11:g.8564832_8564833dup, NC_000001.10:g.8624891_8624892del, NC_000001.10:g.8624891_8624892dup, NG_047035.1:g.257860_257861del, NG_047035.1:g.257860_257861dup

Select item 14915822423.

rs1491582242 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 1:8601626 (GRCh38)
1:8661685 (GRCh37)
Canonical SPDI:: NC_000001.11:8601625:CC:
Gene:: RERE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.0001/6 (GnomAD)
-=0.00018/3 (TOMMO)
HGVS:: NC_000001.11:g.8601626_8601627del, NC_000001.10:g.8661685_8661686del, NG_047035.1:g.221065_221066del

Select item 14915797384.

rs1491579738 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:8607363 (GRCh38)
1:8667423 (GRCh37)
Canonical SPDI:: NC_000001.11:8607363::G
Gene:: RERE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000009/1 (GnomAD)
HGVS:: NC_000001.11:g.8607363_8607364insG, NC_000001.10:g.8667422_8667423insG, NG_047035.1:g.215328_215329insC

Select item 14915709185.

rs1491570918 has merged into rs1400489828 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:8657321 (GRCh38)
1:8717380 (GRCh37)
Canonical SPDI:: NC_000001.11:8657306:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:8657306:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:8657306:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:8657306:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:8657306:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:8657306:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8657306:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8657306:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RERE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.8657321_8657322del, NC_000001.11:g.8657322del, NC_000001.11:g.8657322dup, NC_000001.11:g.8657321_8657322dup, NC_000001.11:g.8657320_8657322dup, NC_000001.11:g.8657318_8657322dup, NC_000001.11:g.8657313_8657322dup, NC_000001.11:g.8657311_8657322dup, NC_000001.10:g.8717380_8717381del, NC_000001.10:g.8717381del, NC_000001.10:g.8717381dup, NC_000001.10:g.8717380_8717381dup, NC_000001.10:g.8717379_8717381dup, NC_000001.10:g.8717377_8717381dup, NC_000001.10:g.8717372_8717381dup, NC_000001.10:g.8717370_8717381dup, NG_047035.1:g.165384_165385del, NG_047035.1:g.165385del, NG_047035.1:g.165385dup, NG_047035.1:g.165384_165385dup, NG_047035.1:g.165383_165385dup, NG_047035.1:g.165381_165385dup, NG_047035.1:g.165376_165385dup, NG_047035.1:g.165374_165385dup

Select item 14915690976.

rs1491569097 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 1:8400220 (GRCh38)
1:8460281 (GRCh37)
Canonical SPDI:: NC_000001.11:8400220:T:TGT
Gene:: RERE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0.01189/141 (ALFA)
TG=0.00016/5 (GnomAD)
HGVS:: NC_000001.11:g.8400221_8400222insGT, NC_000001.10:g.8460281_8460282insGT, NG_047035.1:g.422471_422472insCA

Select item 14915598487.

rs1491559848 has merged into rs139951538 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 1:8400222 (GRCh38)
1:8460282 (GRCh37)
Canonical SPDI:: NC_000001.11:8400219:ATAT:AT,NC_000001.11:8400219:ATAT:ATATAT,NC_000001.11:8400219:ATAT:ATATATAT
Gene:: RERE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAT=0./0 (ALFA)
-=0.05815/974 (TOMMO)
-=0.15134/678 (Estonian)
-=0.18167/109 (NorthernSweden)
-=0.275/11 (GENOME_DK)
AT=0.34269/342 (GoNL)
-=0.48163/2412 (1000Genomes)
HGVS:: NC_000001.11:g.8400220AT[1], NC_000001.11:g.8400220AT[3], NC_000001.11:g.8400220AT[4], NC_000001.10:g.8460280AT[1], NC_000001.10:g.8460280AT[3], NC_000001.10:g.8460280AT[4], NG_047035.1:g.422469AT[1], NG_047035.1:g.422469AT[3], NG_047035.1:g.422469AT[4]

Select item 14915580138.

rs1491558013 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:8657306 (GRCh38)
1:8717365 (GRCh37)
Canonical SPDI:: NC_000001.11:8657305:CA:
Gene:: RERE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00379/45 (ALFA)
HGVS:: NC_000001.11:g.8657306_8657307del, NC_000001.10:g.8717365_8717366del, NG_047035.1:g.165385_165386del

Select item 14915493149.

rs1491549314 has merged into rs869099404 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 1:8731784 (GRCh38)
1:8791843 (GRCh37)
Canonical SPDI:: NC_000001.11:8731782:TGT:T,NC_000001.11:8731782:TGT:TGTGT
Gene:: RERE (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
-=0.000106/28 (TOPMED)
-=0.000138/17 (GnomAD)
HGVS:: NC_000001.11:g.8731784_8731785del, NC_000001.11:g.8731784_8731785dup, NC_000001.10:g.8791843_8791844del, NC_000001.10:g.8791843_8791844dup, NG_047035.1:g.90908_90909del, NG_047035.1:g.90908_90909dup

Select item 149154912810.

rs1491549128 has merged into rs34580017 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 1:8380352 (GRCh38)
1:8440412 (GRCh37)
Canonical SPDI:: NC_000001.11:8380340:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:8380340:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:8380340:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:8380340:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:8380340:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:8380340:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:8380340:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:8380340:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:8380340:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: RERE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.0789/304 (ALSPAC)
T=0.2125/1064 (1000Genomes)
HGVS:: NC_000001.11:g.8380352_8380357del, NC_000001.11:g.8380353_8380357del, NC_000001.11:g.8380354_8380357del, NC_000001.11:g.8380355_8380357del, NC_000001.11:g.8380356_8380357del, NC_000001.11:g.8380357del, NC_000001.11:g.8380357dup, NC_000001.11:g.8380356_8380357dup, NC_000001.11:g.8380355_8380357dup, NC_000001.10:g.8440412_8440417del, NC_000001.10:g.8440413_8440417del, NC_000001.10:g.8440414_8440417del, NC_000001.10:g.8440415_8440417del, NC_000001.10:g.8440416_8440417del, NC_000001.10:g.8440417del, NC_000001.10:g.8440417dup, NC_000001.10:g.8440416_8440417dup, NC_000001.10:g.8440415_8440417dup, NG_047035.1:g.442346_442351del, NG_047035.1:g.442347_442351del, NG_047035.1:g.442348_442351del, NG_047035.1:g.442349_442351del, NG_047035.1:g.442350_442351del, NG_047035.1:g.442351del, NG_047035.1:g.442351dup, NG_047035.1:g.442350_442351dup, NG_047035.1:g.442349_442351dup, NM_017535.1:c.*380_*385del, NM_017535.1:c.*381_*385del, NM_017535.1:c.*382_*385del, NM_017535.1:c.*383_*385del, NM_017535.1:c.*384_*385del, NM_017535.1:c.*385del, NM_017535.1:c.*385dup, NM_017535.1:c.*384_*385dup, NM_017535.1:c.*383_*385dup

Select item 149154177211.

rs1491541772 has merged into rs1553127411 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:8647657 (GRCh38)
1:8707716 (GRCh37)
Canonical SPDI:: NC_000001.11:8647641:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000001.11:8647641:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000001.11:8647641:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000001.11:8647641:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000001.11:8647641:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:8647641:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:8647641:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:8647641:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:8647641:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:8647641:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:8647641:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:8647641:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:8647641:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:8647641:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:8647641:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:8647641:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:8647641:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:8647641:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:8647641:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:8647641:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:8647641:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: RERE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.09976/1670 (TOMMO)
-=0.11026/202 (Korea1K)
-=0.34783/16 (Vietnamese)
HGVS:: NC_000001.11:g.8647643GT[7], NC_000001.11:g.8647643GT[8], NC_000001.11:g.8647643GT[9], NC_000001.11:g.8647643GT[10], NC_000001.11:g.8647643GT[11], NC_000001.11:g.8647643GT[12], NC_000001.11:g.8647643GT[13], NC_000001.11:g.8647643GT[14], NC_000001.11:g.8647643GT[15], NC_000001.11:g.8647643GT[16], NC_000001.11:g.8647643GT[17], NC_000001.11:g.8647643GT[19], NC_000001.11:g.8647643GT[20], NC_000001.11:g.8647643GT[21], NC_000001.11:g.8647643GT[22], NC_000001.11:g.8647643GT[23], NC_000001.11:g.8647643GT[24], NC_000001.11:g.8647643GT[25], NC_000001.11:g.8647643GT[26], NC_000001.11:g.8647643GT[27], NC_000001.11:g.8647643GT[28], NC_000001.10:g.8707702GT[7], NC_000001.10:g.8707702GT[8], NC_000001.10:g.8707702GT[9], NC_000001.10:g.8707702GT[10], NC_000001.10:g.8707702GT[11], NC_000001.10:g.8707702GT[12], NC_000001.10:g.8707702GT[13], NC_000001.10:g.8707702GT[14], NC_000001.10:g.8707702GT[15], NC_000001.10:g.8707702GT[16], NC_000001.10:g.8707702GT[17], NC_000001.10:g.8707702GT[19], NC_000001.10:g.8707702GT[20], NC_000001.10:g.8707702GT[21], NC_000001.10:g.8707702GT[22], NC_000001.10:g.8707702GT[23], NC_000001.10:g.8707702GT[24], NC_000001.10:g.8707702GT[25], NC_000001.10:g.8707702GT[26], NC_000001.10:g.8707702GT[27], NC_000001.10:g.8707702GT[28], NG_047035.1:g.175015CA[7], NG_047035.1:g.175015CA[8], NG_047035.1:g.175015CA[9], NG_047035.1:g.175015CA[10], NG_047035.1:g.175015CA[11], NG_047035.1:g.175015CA[12], NG_047035.1:g.175015CA[13], NG_047035.1:g.175015CA[14], NG_047035.1:g.175015CA[15], NG_047035.1:g.175015CA[16], NG_047035.1:g.175015CA[17], NG_047035.1:g.175015CA[19], NG_047035.1:g.175015CA[20], NG_047035.1:g.175015CA[21], NG_047035.1:g.175015CA[22], NG_047035.1:g.175015CA[23], NG_047035.1:g.175015CA[24], NG_047035.1:g.175015CA[25], NG_047035.1:g.175015CA[26], NG_047035.1:g.175015CA[27], NG_047035.1:g.175015CA[28]

Select item 149153996912.

rs1491539969 has merged into rs1240062067 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT,CTCTCT [Show Flanks]
Chromosome:: 1:8668924 (GRCh38)
1:8728983 (GRCh37)
Canonical SPDI:: NC_000001.11:8668921:CTCT:CT,NC_000001.11:8668921:CTCT:CTCTCT,NC_000001.11:8668921:CTCT:CTCTCTCT
Gene:: RERE (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCT=0./0 (ALFA)
-=0.00022/4 (TOMMO)
HGVS:: NC_000001.11:g.8668922CT[1], NC_000001.11:g.8668922CT[3], NC_000001.11:g.8668922CT[4], NC_000001.10:g.8728981CT[1], NC_000001.10:g.8728981CT[3], NC_000001.10:g.8728981CT[4], NG_047035.1:g.153767AG[1], NG_047035.1:g.153767AG[3], NG_047035.1:g.153767AG[4]

Select item 149153862713.

rs1491538627 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAAAAA [Show Flanks]
Chromosome:: 1:8633478 (GRCh38)
1:8693537 (GRCh37)
Canonical SPDI:: NC_000001.11:8633476:AAAAA:A,NC_000001.11:8633476:AAAAA:AAA,NC_000001.11:8633476:AAAAA:AAAAAAA
Gene:: RERE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.002228/308 (GnomAD)
-=0.054569/915 (TOMMO)
HGVS:: NC_000001.11:g.8633478_8633481del, NC_000001.11:g.8633480_8633481del, NC_000001.11:g.8633480_8633481dup, NC_000001.10:g.8693537_8693540del, NC_000001.10:g.8693539_8693540del, NC_000001.10:g.8693539_8693540dup, NG_047035.1:g.189212_189215del, NG_047035.1:g.189214_189215del, NG_047035.1:g.189214_189215dup

Select item 149153834314.

rs1491538343 has merged into rs33956517 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:8486762 (GRCh38)
1:8546822 (GRCh37)
Canonical SPDI:: NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:8486755:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAA
Gene:: RERE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
AA=0.325/13 (GENOME_DK)
-=0.408546/2046 (1000Genomes)
HGVS:: NC_000001.11:g.8486762_8486772del, NC_000001.11:g.8486763_8486772del, NC_000001.11:g.8486765_8486772del, NC_000001.11:g.8486766_8486772del, NC_000001.11:g.8486767_8486772del, NC_000001.11:g.8486768_8486772del, NC_000001.11:g.8486769_8486772del, NC_000001.11:g.8486770_8486772del, NC_000001.11:g.8486771_8486772del, NC_000001.11:g.8486772del, NC_000001.11:g.8486772dup, NC_000001.11:g.8486771_8486772dup, NC_000001.11:g.8486770_8486772dup, NC_000001.11:g.8486769_8486772dup, NC_000001.11:g.8486768_8486772dup, NC_000001.11:g.8486767_8486772dup, NC_000001.11:g.8486766_8486772dup, NC_000001.11:g.8486765_8486772dup, NC_000001.11:g.8486764_8486772dup, NC_000001.11:g.8486763_8486772dup, NC_000001.11:g.8486762_8486772dup, NC_000001.11:g.8486761_8486772dup, NC_000001.11:g.8486760_8486772dup, NC_000001.11:g.8486759_8486772dup, NC_000001.11:g.8486758_8486772dup, NC_000001.11:g.8486757_8486772dup, NC_000001.11:g.8486756_8486772dup, NC_000001.11:g.8486772_8486773insAAAAAAAAAAAAAAAAAA, NC_000001.11:g.8486772_8486773insAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.8486772_8486773insAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.8486772_8486773insAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.8486772_8486773insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.8486772_8486773insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.8486772_8486773insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.8486772_8486773insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.8486772_8486773insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.8486756_8486772A[43]CAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.8546822_8546832del, NC_000001.10:g.8546823_8546832del, NC_000001.10:g.8546825_8546832del, NC_000001.10:g.8546826_8546832del, NC_000001.10:g.8546827_8546832del, NC_000001.10:g.8546828_8546832del, NC_000001.10:g.8546829_8546832del, NC_000001.10:g.8546830_8546832del, NC_000001.10:g.8546831_8546832del, NC_000001.10:g.8546832del, NC_000001.10:g.8546832dup, NC_000001.10:g.8546831_8546832dup, NC_000001.10:g.8546830_8546832dup, NC_000001.10:g.8546829_8546832dup, NC_000001.10:g.8546828_8546832dup, NC_000001.10:g.8546827_8546832dup, NC_000001.10:g.8546826_8546832dup, NC_000001.10:g.8546825_8546832dup, NC_000001.10:g.8546824_8546832dup, NC_000001.10:g.8546823_8546832dup, NC_000001.10:g.8546822_8546832dup, NC_000001.10:g.8546821_8546832dup, NC_000001.10:g.8546820_8546832dup, NC_000001.10:g.8546819_8546832dup, NC_000001.10:g.8546818_8546832dup, NC_000001.10:g.8546817_8546832dup, NC_000001.10:g.8546816_8546832dup, NC_000001.10:g.8546832_8546833insAAAAAAAAAAAAAAAAAA, NC_000001.10:g.8546832_8546833insAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.8546832_8546833insAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.8546832_8546833insAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.8546832_8546833insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.8546832_8546833insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.8546832_8546833insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.8546832_8546833insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.8546832_8546833insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.8546816_8546832A[43]CAAAAAAAAAAAAAAAAAAA[1], NG_047035.1:g.335926_335936del, NG_047035.1:g.335927_335936del, NG_047035.1:g.335929_335936del, NG_047035.1:g.335930_335936del, NG_047035.1:g.335931_335936del, NG_047035.1:g.335932_335936del, NG_047035.1:g.335933_335936del, NG_047035.1:g.335934_335936del, NG_047035.1:g.335935_335936del, NG_047035.1:g.335936del, NG_047035.1:g.335936dup, NG_047035.1:g.335935_335936dup, NG_047035.1:g.335934_335936dup, NG_047035.1:g.335933_335936dup, NG_047035.1:g.335932_335936dup, NG_047035.1:g.335931_335936dup, NG_047035.1:g.335930_335936dup, NG_047035.1:g.335929_335936dup, NG_047035.1:g.335928_335936dup, NG_047035.1:g.335927_335936dup, NG_047035.1:g.335926_335936dup, NG_047035.1:g.335925_335936dup, NG_047035.1:g.335924_335936dup, NG_047035.1:g.335923_335936dup, NG_047035.1:g.335922_335936dup, NG_047035.1:g.335921_335936dup, NG_047035.1:g.335920_335936dup, NG_047035.1:g.335936_335937insTTTTTTTTTTTTTTTTTT, NG_047035.1:g.335936_335937insTTTTTTTTTTTTTTTTTTT, NG_047035.1:g.335936_335937insTTTTTTTTTTTTTTTTTTTT, NG_047035.1:g.335936_335937insTTTTTTTTTTTTTTTTTTTTT, NG_047035.1:g.335936_335937insTTTTTTTTTTTTTTTTTTTTTT, NG_047035.1:g.335936_335937insTTTTTTTTTTTTTTTTTTTTTTT, NG_047035.1:g.335936_335937insTTTTTTTTTTTTTTTTTTTTTTTT, NG_047035.1:g.335936_335937insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047035.1:g.335936_335937insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047035.1:g.335920_335936T[19]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 149153667315.

rs1491536673 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C,T [Show Flanks]
Chromosome:: 1:8501032 (GRCh38)
1:8561093 (GRCh37)
Canonical SPDI:: NC_000001.11:8501032::A,NC_000001.11:8501032::C,NC_000001.11:8501032::T
Gene:: RERE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.8501032_8501033insA, NC_000001.11:g.8501032_8501033insC, NC_000001.11:g.8501032_8501033insT, NC_000001.10:g.8561092_8561093insA, NC_000001.10:g.8561092_8561093insC, NC_000001.10:g.8561092_8561093insT, NG_047035.1:g.321659_321660insT, NG_047035.1:g.321659_321660insG, NG_047035.1:g.321659_321660insA

Select item 149153349616.

rs1491533496 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:8498771 (GRCh38)
1:8558831 (GRCh37)
Canonical SPDI:: NC_000001.11:8498768:ATAT:AT
Gene:: RERE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.00737/940 (GnomAD)
HGVS:: NC_000001.11:g.8498769AT[1], NC_000001.10:g.8558829AT[1], NG_047035.1:g.323920AT[1]

Select item 149152885817.

rs1491528858 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:8657323 (GRCh38)
1:8717382 (GRCh37)
Canonical SPDI:: NC_000001.11:8657321:AGA:A
Gene:: RERE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.138088/1638 (ALFA)
-=0.098258/1614 (TOMMO)
-=0.144404/17993 (GnomAD)
-=0.156593/285 (Korea1K)
HGVS:: NC_000001.11:g.8657323_8657324del, NC_000001.10:g.8717382_8717383del, NG_047035.1:g.165369_165370del

Select item 149152767618.

rs1491527676 has merged into rs34547801 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:8529296 (GRCh38)
1:8589355 (GRCh37)
Canonical SPDI:: NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:8529287:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RERE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.8529296_8529307del, NC_000001.11:g.8529297_8529307del, NC_000001.11:g.8529298_8529307del, NC_000001.11:g.8529300_8529307del, NC_000001.11:g.8529301_8529307del, NC_000001.11:g.8529302_8529307del, NC_000001.11:g.8529303_8529307del, NC_000001.11:g.8529304_8529307del, NC_000001.11:g.8529305_8529307del, NC_000001.11:g.8529306_8529307del, NC_000001.11:g.8529307del, NC_000001.11:g.8529307dup, NC_000001.11:g.8529306_8529307dup, NC_000001.11:g.8529305_8529307dup, NC_000001.11:g.8529304_8529307dup, NC_000001.11:g.8529303_8529307dup, NC_000001.11:g.8529302_8529307dup, NC_000001.11:g.8529301_8529307dup, NC_000001.11:g.8529300_8529307dup, NC_000001.11:g.8529299_8529307dup, NC_000001.11:g.8529298_8529307dup, NC_000001.11:g.8529297_8529307dup, NC_000001.11:g.8529296_8529307dup, NC_000001.11:g.8529295_8529307dup, NC_000001.11:g.8529294_8529307dup, NC_000001.11:g.8529293_8529307dup, NC_000001.11:g.8529292_8529307dup, NC_000001.11:g.8529291_8529307dup, NC_000001.11:g.8529290_8529307dup, NC_000001.11:g.8529289_8529307dup, NC_000001.11:g.8529288_8529307dup, NC_000001.11:g.8529307_8529308insTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.8529307_8529308insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.8529307_8529308insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.8529307_8529308insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.8529307_8529308insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.8529307_8529308insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.8529307_8529308insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.8529307_8529308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.8529307_8529308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.8529307_8529308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.8529307_8529308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.8529307_8529308insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.8589355_8589366del, NC_000001.10:g.8589356_8589366del, NC_000001.10:g.8589357_8589366del, NC_000001.10:g.8589359_8589366del, NC_000001.10:g.8589360_8589366del, NC_000001.10:g.8589361_8589366del, NC_000001.10:g.8589362_8589366del, NC_000001.10:g.8589363_8589366del, NC_000001.10:g.8589364_8589366del, NC_000001.10:g.8589365_8589366del, NC_000001.10:g.8589366del, NC_000001.10:g.8589366dup, NC_000001.10:g.8589365_8589366dup, NC_000001.10:g.8589364_8589366dup, NC_000001.10:g.8589363_8589366dup, NC_000001.10:g.8589362_8589366dup, NC_000001.10:g.8589361_8589366dup, NC_000001.10:g.8589360_8589366dup, NC_000001.10:g.8589359_8589366dup, NC_000001.10:g.8589358_8589366dup, NC_000001.10:g.8589357_8589366dup, NC_000001.10:g.8589356_8589366dup, NC_000001.10:g.8589355_8589366dup, NC_000001.10:g.8589354_8589366dup, NC_000001.10:g.8589353_8589366dup, NC_000001.10:g.8589352_8589366dup, NC_000001.10:g.8589351_8589366dup, NC_000001.10:g.8589350_8589366dup, NC_000001.10:g.8589349_8589366dup, NC_000001.10:g.8589348_8589366dup, NC_000001.10:g.8589347_8589366dup, NC_000001.10:g.8589366_8589367insTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.8589366_8589367insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.8589366_8589367insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.8589366_8589367insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.8589366_8589367insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.8589366_8589367insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.8589366_8589367insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.8589366_8589367insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.8589366_8589367insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.8589366_8589367insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.8589366_8589367insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.8589366_8589367insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047035.1:g.293393_293404del, NG_047035.1:g.293394_293404del, NG_047035.1:g.293395_293404del, NG_047035.1:g.293397_293404del, NG_047035.1:g.293398_293404del, NG_047035.1:g.293399_293404del, NG_047035.1:g.293400_293404del, NG_047035.1:g.293401_293404del, NG_047035.1:g.293402_293404del, NG_047035.1:g.293403_293404del, NG_047035.1:g.293404del, NG_047035.1:g.293404dup, NG_047035.1:g.293403_293404dup, NG_047035.1:g.293402_293404dup, NG_047035.1:g.293401_293404dup, NG_047035.1:g.293400_293404dup, NG_047035.1:g.293399_293404dup, NG_047035.1:g.293398_293404dup, NG_047035.1:g.293397_293404dup, NG_047035.1:g.293396_293404dup, NG_047035.1:g.293395_293404dup, NG_047035.1:g.293394_293404dup, NG_047035.1:g.293393_293404dup, NG_047035.1:g.293392_293404dup, NG_047035.1:g.293391_293404dup, NG_047035.1:g.293390_293404dup, NG_047035.1:g.293389_293404dup, NG_047035.1:g.293388_293404dup, NG_047035.1:g.293387_293404dup, NG_047035.1:g.293386_293404dup, NG_047035.1:g.293385_293404dup, NG_047035.1:g.293404_293405insAAAAAAAAAAAAAAAAAAAAA, NG_047035.1:g.293404_293405insAAAAAAAAAAAAAAAAAAAAAA, NG_047035.1:g.293404_293405insAAAAAAAAAAAAAAAAAAAAAAA, NG_047035.1:g.293404_293405insAAAAAAAAAAAAAAAAAAAAAAAA, NG_047035.1:g.293404_293405insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047035.1:g.293404_293405insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047035.1:g.293404_293405insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047035.1:g.293404_293405insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047035.1:g.293404_293405insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047035.1:g.293404_293405insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047035.1:g.293404_293405insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047035.1:g.293404_293405insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149151545719.

rs1491515457 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AAAA,AAAAAA [Show Flanks]
Chromosome:: 1:8503084 (GRCh38)
1:8563145 (GRCh37)
Canonical SPDI:: NC_000001.11:8503084::A,NC_000001.11:8503084::AAAA,NC_000001.11:8503084::AAAAAA
Gene:: RERE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.8503084_8503085insA, NC_000001.11:g.8503084_8503085insAAAA, NC_000001.11:g.8503084_8503085insAAAAAA, NC_000001.10:g.8563144_8563145insA, NC_000001.10:g.8563144_8563145insAAAA, NC_000001.10:g.8563144_8563145insAAAAAA, NG_047035.1:g.319607_319608insT, NG_047035.1:g.319607_319608insTTTT, NG_047035.1:g.319607_319608insTTTTTT

Select item 149150713420.

rs1491507134 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:8366927 (GRCh38)
1:8426988 (GRCh37)
Canonical SPDI:: NC_000001.11:8366927::C
Gene:: RERE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00423/69 (ALFA)
C=0.000489/8 (TOMMO)
C=0.001975/262 (GnomAD)
C=0.002732/5 (Korea1K)
HGVS:: NC_000001.11:g.8366927_8366928insC, NC_000001.10:g.8426987_8426988insC, NG_047035.1:g.455764_455765insG

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity