SNP Links for Gene (Select 100526761) - SNP

Links from Gene

Items: 1 to 20 of 27060

<< First< Prev

Page of 1353

Next >Last >>

Select item 14915716571.

rs1491571657 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 13:36184459 (GRCh38)
13:36758596 (GRCh37)
Canonical SPDI:: NC_000013.11:36184458:CC:
Gene:: SOHLH2 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00003/3 (GnomAD)
-=0.00259/10 (ALSPAC)
-=0.00324/12 (TWINSUK)
HGVS:: NC_000013.11:g.36184459_36184460del, NC_000013.10:g.36758596_36758597del, NG_033786.1:g.35156_35157del

Select item 14915706672.

rs1491570667 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 13:36203971 (GRCh38)
13:36778108 (GRCh37)
Canonical SPDI:: NC_000013.11:36203970:TG:
Gene:: SOHLH2 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000013.11:g.36203971_36203972del, NC_000013.10:g.36778108_36778109del, NG_033786.1:g.15644_15645del

Select item 14915459703.

rs1491545970 has merged into rs35290959 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:36225216 (GRCh38)
13:36799353 (GRCh37)
Canonical SPDI:: NC_000013.11:36225209:TTTTTTTTTTTTT:TTTTTT,NC_000013.11:36225209:TTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:36225209:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:36225209:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:36225209:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:36225209:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:36225209:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:36225209:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TT=0.373/1098 (1000Genomes)
HGVS:: NC_000013.11:g.36225216_36225222del, NC_000013.11:g.36225219_36225222del, NC_000013.11:g.36225220_36225222del, NC_000013.11:g.36225221_36225222del, NC_000013.11:g.36225222del, NC_000013.11:g.36225222dup, NC_000013.11:g.36225221_36225222dup, NC_000013.11:g.36225218_36225222dup, NC_000013.10:g.36799353_36799359del, NC_000013.10:g.36799356_36799359del, NC_000013.10:g.36799357_36799359del, NC_000013.10:g.36799358_36799359del, NC_000013.10:g.36799359del, NC_000013.10:g.36799359dup, NC_000013.10:g.36799358_36799359dup, NC_000013.10:g.36799355_36799359dup, NM_001144982.3:c.*1985_*1991del, NM_001144982.3:c.*1988_*1991del, NM_001144982.3:c.*1989_*1991del, NM_001144982.3:c.*1990_*1991del, NM_001144982.3:c.*1991del, NM_001144982.3:c.*1991dup, NM_001144982.3:c.*1990_*1991dup, NM_001144982.3:c.*1987_*1991dup, NM_001144983.3:c.*1985_*1991del, NM_001144983.3:c.*1988_*1991del, NM_001144983.3:c.*1989_*1991del, NM_001144983.3:c.*1990_*1991del, NM_001144983.3:c.*1991del, NM_001144983.3:c.*1991dup, NM_001144983.3:c.*1990_*1991dup, NM_001144983.3:c.*1987_*1991dup, NM_001144984.3:c.*1985_*1991del, NM_001144984.3:c.*1988_*1991del, NM_001144984.3:c.*1989_*1991del, NM_001144984.3:c.*1990_*1991del, NM_001144984.3:c.*1991del, NM_001144984.3:c.*1991dup, NM_001144984.3:c.*1990_*1991dup, NM_001144984.3:c.*1987_*1991dup, NM_001198908.2:c.*1985_*1991del, NM_001198908.2:c.*1988_*1991del, NM_001198908.2:c.*1989_*1991del, NM_001198908.2:c.*1990_*1991del, NM_001198908.2:c.*1991del, NM_001198908.2:c.*1991dup, NM_001198908.2:c.*1990_*1991dup, NM_001198908.2:c.*1987_*1991dup

Select item 14914407224.

rs1491440722 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 13:36196126 (GRCh38)
13:36770263 (GRCh37)
Canonical SPDI:: NC_000013.11:36196125:AA:
Gene:: SOHLH2 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00079/98 (GnomAD)
-=0.00269/45 (TOMMO)
-=0.004913/9 (Korea1K)
HGVS:: NC_000013.11:g.36196126_36196127del, NC_000013.10:g.36770263_36770264del, NG_033786.1:g.23489_23490del

Select item 14913943335.

rs1491394333 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATT [Show Flanks]
Chromosome:: 13:36184460 (GRCh38)
13:36758598 (GRCh37)
Canonical SPDI:: NC_000013.11:36184460::A,NC_000013.11:36184460::ATT
Gene:: SOHLH2 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000013.11:g.36184460_36184461insA, NC_000013.11:g.36184460_36184461insATT, NC_000013.10:g.36758597_36758598insA, NC_000013.10:g.36758597_36758598insATT, NG_033786.1:g.35155_35156insT, NG_033786.1:g.35155_35156insAAT

Select item 14913880566.

rs1491388056 has merged into rs1368470201 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 13:36254292 (GRCh38)
13:36828429 (GRCh37)
Canonical SPDI:: NC_000013.11:36254275:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:36254275:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:36254275:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:36254275:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:36254275:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36254275:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36254275:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000013.11:g.36254292_36254294del, NC_000013.11:g.36254293_36254294del, NC_000013.11:g.36254294del, NC_000013.11:g.36254294dup, NC_000013.11:g.36254293_36254294dup, NC_000013.11:g.36254292_36254294dup, NC_000013.11:g.36254291_36254294dup, NC_000013.10:g.36828429_36828431del, NC_000013.10:g.36828430_36828431del, NC_000013.10:g.36828431del, NC_000013.10:g.36828431dup, NC_000013.10:g.36828430_36828431dup, NC_000013.10:g.36828429_36828431dup, NC_000013.10:g.36828428_36828431dup

Select item 14913738567.

rs1491373856 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:36277944 (GRCh38)
13:36852081 (GRCh37)
Canonical SPDI:: NC_000013.11:36277943:CA:
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000013.11:g.36277944_36277945del, NC_000013.10:g.36852081_36852082del

Select item 14913205188.

rs1491320518 [Homo sapiens]

Variant type:: INS
Alleles:: ->GGTC [Show Flanks]
Chromosome:: 13:36216341 (GRCh38)
13:36790479 (GRCh37)
Canonical SPDI:: NC_000013.11:36216341::GGTC
Gene:: SOHLH2 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGTC=0.000927/11 (ALFA)
GGTC=0.000138/16 (GnomAD)
HGVS:: NC_000013.11:g.36216341_36216342insGGTC, NC_000013.10:g.36790478_36790479insGGTC, NG_033786.1:g.3274_3275insGACC

Select item 14913026359.

rs1491302635 has merged into rs869169397 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 13:36184460 (GRCh38)
13:36758597 (GRCh37)
Canonical SPDI:: NC_000013.11:36184459:CT:
Gene:: SOHLH2 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00032/24 (GnomAD)
HGVS:: NC_000013.11:g.36184460_36184461del, NC_000013.10:g.36758597_36758598del, NG_033786.1:g.35155_35156del

Select item 149128274610.

rs1491282746 has merged into rs3083971 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:36274880 (GRCh38)
13:36849017 (GRCh37)
Canonical SPDI:: NC_000013.11:36274868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:36274868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:36274868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:36274868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:36274868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:36274868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:36274868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:36274868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36274868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36274868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36274868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36274868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36274868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36274868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36274868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36274868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36274868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36274868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36274868:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000013.11:g.36274880_36274888del, NC_000013.11:g.36274881_36274888del, NC_000013.11:g.36274883_36274888del, NC_000013.11:g.36274885_36274888del, NC_000013.11:g.36274886_36274888del, NC_000013.11:g.36274887_36274888del, NC_000013.11:g.36274888del, NC_000013.11:g.36274888dup, NC_000013.11:g.36274887_36274888dup, NC_000013.11:g.36274886_36274888dup, NC_000013.11:g.36274885_36274888dup, NC_000013.11:g.36274884_36274888dup, NC_000013.11:g.36274883_36274888dup, NC_000013.11:g.36274882_36274888dup, NC_000013.11:g.36274881_36274888dup, NC_000013.11:g.36274880_36274888dup, NC_000013.11:g.36274879_36274888dup, NC_000013.11:g.36274871_36274888dup, NC_000013.11:g.36274888_36274889insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.36849017_36849025del, NC_000013.10:g.36849018_36849025del, NC_000013.10:g.36849020_36849025del, NC_000013.10:g.36849022_36849025del, NC_000013.10:g.36849023_36849025del, NC_000013.10:g.36849024_36849025del, NC_000013.10:g.36849025del, NC_000013.10:g.36849025dup, NC_000013.10:g.36849024_36849025dup, NC_000013.10:g.36849023_36849025dup, NC_000013.10:g.36849022_36849025dup, NC_000013.10:g.36849021_36849025dup, NC_000013.10:g.36849020_36849025dup, NC_000013.10:g.36849019_36849025dup, NC_000013.10:g.36849018_36849025dup, NC_000013.10:g.36849017_36849025dup, NC_000013.10:g.36849016_36849025dup, NC_000013.10:g.36849008_36849025dup, NC_000013.10:g.36849025_36849026insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149127359311.

rs1491273593 [Homo sapiens]

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

Select item 149122522112.

rs1491225221 has merged into rs748848806 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 13:36178830 (GRCh38)
13:36752967 (GRCh37)
Canonical SPDI:: NC_000013.11:36178820:TTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:36178820:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:36178820:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:36178820:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:36178820:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:36178820:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: SOHLH2 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.175/7 (GENOME_DK)
HGVS:: NC_000013.11:g.36178830_36178833del, NC_000013.11:g.36178831_36178833del, NC_000013.11:g.36178832_36178833del, NC_000013.11:g.36178833del, NC_000013.11:g.36178833dup, NC_000013.11:g.36178832_36178833dup, NC_000013.10:g.36752967_36752970del, NC_000013.10:g.36752968_36752970del, NC_000013.10:g.36752969_36752970del, NC_000013.10:g.36752970del, NC_000013.10:g.36752970dup, NC_000013.10:g.36752969_36752970dup, NG_033786.1:g.40792_40795del, NG_033786.1:g.40793_40795del, NG_033786.1:g.40794_40795del, NG_033786.1:g.40795del, NG_033786.1:g.40795dup, NG_033786.1:g.40794_40795dup

Select item 149118729513.

rs1491187295 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 13:36178821 (GRCh38)
13:36752959 (GRCh37)
Canonical SPDI:: NC_000013.11:36178821::G
Gene:: SOHLH2 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000034/9 (TOPMED)
G=0.000041/4 (GnomAD)
HGVS:: NC_000013.11:g.36178821_36178822insG, NC_000013.10:g.36752958_36752959insG, NG_033786.1:g.40794_40795insC

Select item 149116361614.

rs1491163616 has merged into rs71084416 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:36277957 (GRCh38)
13:36852094 (GRCh37)
Canonical SPDI:: NC_000013.11:36277944:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:36277944:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:36277944:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:36277944:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:36277944:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:36277944:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:36277944:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:36277944:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36277944:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000013.11:g.36277957_36277961del, NC_000013.11:g.36277958_36277961del, NC_000013.11:g.36277959_36277961del, NC_000013.11:g.36277960_36277961del, NC_000013.11:g.36277961del, NC_000013.11:g.36277961dup, NC_000013.11:g.36277960_36277961dup, NC_000013.11:g.36277956_36277961dup, NC_000013.11:g.36277954_36277961dup, NC_000013.10:g.36852094_36852098del, NC_000013.10:g.36852095_36852098del, NC_000013.10:g.36852096_36852098del, NC_000013.10:g.36852097_36852098del, NC_000013.10:g.36852098del, NC_000013.10:g.36852098dup, NC_000013.10:g.36852097_36852098dup, NC_000013.10:g.36852093_36852098dup, NC_000013.10:g.36852091_36852098dup

Select item 149114816315.

rs1491148163 has merged into rs1555245964 [Homo sapiens]

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

Select item 149114289916.

rs1491142899 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 13:36254275 (GRCh38)
13:36828412 (GRCh37)
Canonical SPDI:: NC_000013.11:36254274:CT:
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.36254275_36254276del, NC_000013.10:g.36828412_36828413del

Select item 149108117717.

rs1491081177 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTTTTTTTTTTTTTTTTTCT [Show Flanks]
Chromosome:: 13:36203970 (GRCh38)
13:36778108 (GRCh37)
Canonical SPDI:: NC_000013.11:36203970:T:TTTTTTTTTTTTTTTTTTTTTCT
Gene:: SOHLH2 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTTTTTTTTTTTTTTTCT=0.0002/1 (ALFA)
HGVS:: NC_000013.11:g.36203971T[21]CT[1], NC_000013.10:g.36778108T[21]CT[1], NG_033786.1:g.15645_15646insGAAAAAAAAAAAAAAAAAAAAA

Select item 149096402418.

rs1490964024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:36283006 (GRCh38)
13:36857143 (GRCh37)
Canonical SPDI:: NC_000013.11:36283005:C:T
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.36283006C>T, NC_000013.10:g.36857143C>T

Select item 149094287019.

rs1490942870 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:36280650 (GRCh38)
13:36854787 (GRCh37)
Canonical SPDI:: NC_000013.11:36280649:T:C
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.36280650T>C, NC_000013.10:g.36854787T>C

Select item 149093630520.

rs1490936305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:36298749 (GRCh38)
13:36872886 (GRCh37)
Canonical SPDI:: NC_000013.11:36298748:G:A
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (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_000013.11:g.36298749G>A, NC_000013.10:g.36872886G>A

<< First< Prev

Page of 1353

Next >Last >>

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 27060

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity