SNP Links for Gene (Select 1601) - SNP

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Select item 14915756511.

rs1491575651 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:39404425 (GRCh38)
5:39404527 (GRCh37)
Canonical SPDI:: NC_000005.10:39404423:ATA:A
Gene:: DAB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00068/11 (ALFA)
-=0.000212/4 (TOMMO)
-=0.000768/93 (GnomAD)
-=0.001098/2 (Korea1K)
-=0.001718/11 (1000Genomes)
HGVS:: NC_000005.10:g.39404425_39404426del, NC_000005.9:g.39404527_39404528del, NG_030312.1:g.25809_25810del

Select item 14915449712.

rs1491544971 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATATA [Show Flanks]
Chromosome:: 5:39391993 (GRCh38)
5:39392095 (GRCh37)
Canonical SPDI:: NC_000005.10:39391981:ATATATATATATA:ATATATATATA,NC_000005.10:39391981:ATATATATATATA:ATATATATATATATA,NC_000005.10:39391981:ATATATATATATA:ATATATATATATATATA
Gene:: DAB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATA=0.00208/26 (ALFA)
ATAT=0.05184/31 (NorthernSweden)
HGVS:: NC_000005.10:g.39391983TA[5], NC_000005.10:g.39391983TA[7], NC_000005.10:g.39391983TA[8], NC_000005.9:g.39392085TA[5], NC_000005.9:g.39392085TA[7], NC_000005.9:g.39392085TA[8], NG_030312.1:g.38241AT[5], NG_030312.1:g.38241AT[7], NG_030312.1:g.38241AT[8]

Select item 14914227623.

rs1491422762 [Homo sapiens]

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

Select item 14912353494.

rs1491235349 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 5:39391982 (GRCh38)
5:39392085 (GRCh37)
Canonical SPDI:: NC_000005.10:39391982:T:TGT
Gene:: DAB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TG=0.000445/54 (GnomAD)
HGVS:: NC_000005.10:g.39391983_39391984insGT, NC_000005.9:g.39392085_39392086insGT, NG_030312.1:g.38251_38252insCA

Select item 14911998065.

rs1491199806 has merged into rs10708821 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:39391973 (GRCh38)
5:39392075 (GRCh37)
Canonical SPDI:: NC_000005.10:39391965:AAAAAAAAAAAAAAAAA:AAAAAAA,NC_000005.10:39391965:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:39391965:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:39391965:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:39391965:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:39391965:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:39391965:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:39391965:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:39391965:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:39391965:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:39391965:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:39391965:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: DAB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.1034/518 (1000Genomes)
HGVS:: NC_000005.10:g.39391973_39391982del, NC_000005.10:g.39391974_39391982del, NC_000005.10:g.39391975_39391982del, NC_000005.10:g.39391976_39391982del, NC_000005.10:g.39391977_39391982del, NC_000005.10:g.39391978_39391982del, NC_000005.10:g.39391979_39391982del, NC_000005.10:g.39391980_39391982del, NC_000005.10:g.39391981_39391982del, NC_000005.10:g.39391982del, NC_000005.10:g.39391982dup, NC_000005.10:g.39391981_39391982dup, NC_000005.9:g.39392075_39392084del, NC_000005.9:g.39392076_39392084del, NC_000005.9:g.39392077_39392084del, NC_000005.9:g.39392078_39392084del, NC_000005.9:g.39392079_39392084del, NC_000005.9:g.39392080_39392084del, NC_000005.9:g.39392081_39392084del, NC_000005.9:g.39392082_39392084del, NC_000005.9:g.39392083_39392084del, NC_000005.9:g.39392084del, NC_000005.9:g.39392084dup, NC_000005.9:g.39392083_39392084dup, NG_030312.1:g.38259_38268del, NG_030312.1:g.38260_38268del, NG_030312.1:g.38261_38268del, NG_030312.1:g.38262_38268del, NG_030312.1:g.38263_38268del, NG_030312.1:g.38264_38268del, NG_030312.1:g.38265_38268del, NG_030312.1:g.38266_38268del, NG_030312.1:g.38267_38268del, NG_030312.1:g.38268del, NG_030312.1:g.38268dup, NG_030312.1:g.38267_38268dup

Select item 14911885406.

rs1491188540 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:39391965 (GRCh38)
5:39392067 (GRCh37)
Canonical SPDI:: NC_000005.10:39391964:CA:
Gene:: DAB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00042/5 (ALFA)
-=0.00094/6 (1000Genomes)
HGVS:: NC_000005.10:g.39391965_39391966del, NC_000005.9:g.39392067_39392068del, NG_030312.1:g.38268_38269del

Select item 14911345317.

rs1491134531 has merged into rs3024228 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:39395948 (GRCh38)
5:39396050 (GRCh37)
Canonical SPDI:: NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:39395937:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DAB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.075/3 (GENOME_DK)
HGVS:: NC_000005.10:g.39395948_39395960del, NC_000005.10:g.39395949_39395960del, NC_000005.10:g.39395950_39395960del, NC_000005.10:g.39395951_39395960del, NC_000005.10:g.39395952_39395960del, NC_000005.10:g.39395953_39395960del, NC_000005.10:g.39395954_39395960del, NC_000005.10:g.39395955_39395960del, NC_000005.10:g.39395956_39395960del, NC_000005.10:g.39395957_39395960del, NC_000005.10:g.39395958_39395960del, NC_000005.10:g.39395959_39395960del, NC_000005.10:g.39395960del, NC_000005.10:g.39395960dup, NC_000005.10:g.39395959_39395960dup, NC_000005.10:g.39395958_39395960dup, NC_000005.10:g.39395957_39395960dup, NC_000005.10:g.39395956_39395960dup, NC_000005.10:g.39395955_39395960dup, NC_000005.10:g.39395954_39395960dup, NC_000005.10:g.39395953_39395960dup, NC_000005.10:g.39395952_39395960dup, NC_000005.10:g.39395951_39395960dup, NC_000005.10:g.39395950_39395960dup, NC_000005.10:g.39395949_39395960dup, NC_000005.10:g.39395948_39395960dup, NC_000005.10:g.39395947_39395960dup, NC_000005.10:g.39395946_39395960dup, NC_000005.10:g.39395945_39395960dup, NC_000005.10:g.39395944_39395960dup, NC_000005.10:g.39395943_39395960dup, NC_000005.10:g.39395942_39395960dup, NC_000005.10:g.39395941_39395960dup, NC_000005.10:g.39395940_39395960dup, NC_000005.10:g.39395939_39395960dup, NC_000005.10:g.39395960_39395961insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.39395960_39395961insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.39395960_39395961insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.39395960_39395961insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.39395960_39395961insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.39395960_39395961insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.39395960_39395961insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.39395960_39395961insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.39396050_39396062del, NC_000005.9:g.39396051_39396062del, NC_000005.9:g.39396052_39396062del, NC_000005.9:g.39396053_39396062del, NC_000005.9:g.39396054_39396062del, NC_000005.9:g.39396055_39396062del, NC_000005.9:g.39396056_39396062del, NC_000005.9:g.39396057_39396062del, NC_000005.9:g.39396058_39396062del, NC_000005.9:g.39396059_39396062del, NC_000005.9:g.39396060_39396062del, NC_000005.9:g.39396061_39396062del, NC_000005.9:g.39396062del, NC_000005.9:g.39396062dup, NC_000005.9:g.39396061_39396062dup, NC_000005.9:g.39396060_39396062dup, NC_000005.9:g.39396059_39396062dup, NC_000005.9:g.39396058_39396062dup, NC_000005.9:g.39396057_39396062dup, NC_000005.9:g.39396056_39396062dup, NC_000005.9:g.39396055_39396062dup, NC_000005.9:g.39396054_39396062dup, NC_000005.9:g.39396053_39396062dup, NC_000005.9:g.39396052_39396062dup, NC_000005.9:g.39396051_39396062dup, NC_000005.9:g.39396050_39396062dup, NC_000005.9:g.39396049_39396062dup, NC_000005.9:g.39396048_39396062dup, NC_000005.9:g.39396047_39396062dup, NC_000005.9:g.39396046_39396062dup, NC_000005.9:g.39396045_39396062dup, NC_000005.9:g.39396044_39396062dup, NC_000005.9:g.39396043_39396062dup, NC_000005.9:g.39396042_39396062dup, NC_000005.9:g.39396041_39396062dup, NC_000005.9:g.39396062_39396063insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.39396062_39396063insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.39396062_39396063insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.39396062_39396063insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.39396062_39396063insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.39396062_39396063insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.39396062_39396063insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.39396062_39396063insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_030312.1:g.34284_34296del, NG_030312.1:g.34285_34296del, NG_030312.1:g.34286_34296del, NG_030312.1:g.34287_34296del, NG_030312.1:g.34288_34296del, NG_030312.1:g.34289_34296del, NG_030312.1:g.34290_34296del, NG_030312.1:g.34291_34296del, NG_030312.1:g.34292_34296del, NG_030312.1:g.34293_34296del, NG_030312.1:g.34294_34296del, NG_030312.1:g.34295_34296del, NG_030312.1:g.34296del, NG_030312.1:g.34296dup, NG_030312.1:g.34295_34296dup, NG_030312.1:g.34294_34296dup, NG_030312.1:g.34293_34296dup, NG_030312.1:g.34292_34296dup, NG_030312.1:g.34291_34296dup, NG_030312.1:g.34290_34296dup, NG_030312.1:g.34289_34296dup, NG_030312.1:g.34288_34296dup, NG_030312.1:g.34287_34296dup, NG_030312.1:g.34286_34296dup, NG_030312.1:g.34285_34296dup, NG_030312.1:g.34284_34296dup, NG_030312.1:g.34283_34296dup, NG_030312.1:g.34282_34296dup, NG_030312.1:g.34281_34296dup, NG_030312.1:g.34280_34296dup, NG_030312.1:g.34279_34296dup, NG_030312.1:g.34278_34296dup, NG_030312.1:g.34277_34296dup, NG_030312.1:g.34276_34296dup, NG_030312.1:g.34275_34296dup, NG_030312.1:g.34296_34297insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030312.1:g.34296_34297insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030312.1:g.34296_34297insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030312.1:g.34296_34297insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030312.1:g.34296_34297insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030312.1:g.34296_34297insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030312.1:g.34296_34297insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030312.1:g.34296_34297insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14910748538.

rs1491074853 has merged into rs33949918 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:39379452 (GRCh38)
5:39379554 (GRCh37)
Canonical SPDI:: NC_000005.10:39379443:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:39379443:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:39379443:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:39379443:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:39379443:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:39379443:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:39379443:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:39379443:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:39379443:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:39379443:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:39379443:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:39379443:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:39379443:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:39379443:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:39379443:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DAB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.39379452_39379464del, NC_000005.10:g.39379453_39379464del, NC_000005.10:g.39379455_39379464del, NC_000005.10:g.39379456_39379464del, NC_000005.10:g.39379458_39379464del, NC_000005.10:g.39379460_39379464del, NC_000005.10:g.39379461_39379464del, NC_000005.10:g.39379462_39379464del, NC_000005.10:g.39379463_39379464del, NC_000005.10:g.39379464del, NC_000005.10:g.39379464dup, NC_000005.10:g.39379463_39379464dup, NC_000005.10:g.39379462_39379464dup, NC_000005.10:g.39379461_39379464dup, NC_000005.10:g.39379460_39379464dup, NC_000005.9:g.39379554_39379566del, NC_000005.9:g.39379555_39379566del, NC_000005.9:g.39379557_39379566del, NC_000005.9:g.39379558_39379566del, NC_000005.9:g.39379560_39379566del, NC_000005.9:g.39379562_39379566del, NC_000005.9:g.39379563_39379566del, NC_000005.9:g.39379564_39379566del, NC_000005.9:g.39379565_39379566del, NC_000005.9:g.39379566del, NC_000005.9:g.39379566dup, NC_000005.9:g.39379565_39379566dup, NC_000005.9:g.39379564_39379566dup, NC_000005.9:g.39379563_39379566dup, NC_000005.9:g.39379562_39379566dup, NG_030312.1:g.50778_50790del, NG_030312.1:g.50779_50790del, NG_030312.1:g.50781_50790del, NG_030312.1:g.50782_50790del, NG_030312.1:g.50784_50790del, NG_030312.1:g.50786_50790del, NG_030312.1:g.50787_50790del, NG_030312.1:g.50788_50790del, NG_030312.1:g.50789_50790del, NG_030312.1:g.50790del, NG_030312.1:g.50790dup, NG_030312.1:g.50789_50790dup, NG_030312.1:g.50788_50790dup, NG_030312.1:g.50787_50790dup, NG_030312.1:g.50786_50790dup

Select item 14909821449.

rs1490982144 has merged into rs1307417839 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TTTTTT [Show Flanks]
Chromosome:: 5:39426002 (GRCh38)
5:39426104 (GRCh37)
Canonical SPDI:: NC_000005.10:39425999:TTTTTTT:TT,NC_000005.10:39425999:TTTTTTT:TTTTTTTT
Gene:: DAB2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000142/2 (TOMMO)
HGVS:: NC_000005.10:g.39426002_39426006del, NC_000005.10:g.39426006dup, NC_000005.9:g.39426104_39426108del, NC_000005.9:g.39426108dup, NG_030312.1:g.4230_4234del, NG_030312.1:g.4234dup

Select item 149094474710.

rs1490944747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:39409876 (GRCh38)
5:39409978 (GRCh37)
Canonical SPDI:: NC_000005.10:39409875:G:A
Gene:: DAB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.39409876G>A, NC_000005.9:g.39409978G>A, NG_030312.1:g.20358C>T

Select item 149074159611.

rs1490741596 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:39426750 (GRCh38)
5:39426852 (GRCh37)
Canonical SPDI:: NC_000005.10:39426749:GA:
Gene:: DAB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.39426750_39426751del, NC_000005.9:g.39426852_39426853del, NG_030312.1:g.3483_3484del

Select item 149071895512.

rs1490718955 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:39407494 (GRCh38)
5:39407596 (GRCh37)
Canonical SPDI:: NC_000005.10:39407493:C:A
Gene:: DAB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000318/5 (TOMMO)
HGVS:: NC_000005.10:g.39407494C>A, NC_000005.9:g.39407596C>A, NG_030312.1:g.22740G>T

Select item 149071649813.

rs1490716498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:39384099 (GRCh38)
5:39384201 (GRCh37)
Canonical SPDI:: NC_000005.10:39384098:C:T
Gene:: DAB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.39384099C>T, NC_000005.9:g.39384201C>T, NG_030312.1:g.46135G>A

Select item 149066793314.

rs1490667933 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:39411213 (GRCh38)
5:39411315 (GRCh37)
Canonical SPDI:: NC_000005.10:39411212:T:A
Gene:: DAB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000005.10:g.39411213T>A, NC_000005.9:g.39411315T>A, NG_030312.1:g.19021A>T

Select item 149063524915.

rs1490635249 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:39400548 (GRCh38)
5:39400650 (GRCh37)
Canonical SPDI:: NC_000005.10:39400547:T:C
Gene:: DAB2 (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_000005.10:g.39400548T>C, NC_000005.9:g.39400650T>C, NG_030312.1:g.29686A>G

Select item 149057570316.

rs1490575703 [Homo sapiens]

Variant type:: DEL
Alleles:: GGT>- [Show Flanks]
Chromosome:: 5:39371839 (GRCh38)
5:39371941 (GRCh37)
Canonical SPDI:: NC_000005.10:39371838:GGT:
Gene:: DAB2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000045/12 (TOPMED)
HGVS:: NC_000005.10:g.39371839_39371841del, NC_000005.9:g.39371941_39371943del, NG_030312.1:g.58393_58395del, NM_001343.4:c.*1590_*1592del, NM_001343.3:c.*1590_*1592del, NM_001244871.2:c.*1590_*1592del, NM_001244871.1:c.*1590_*1592del

Select item 149055246017.

rs1490552460 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:39383513 (GRCh38)
5:39383615 (GRCh37)
Canonical SPDI:: NC_000005.10:39383512:G:A
Gene:: DAB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.39383513G>A, NC_000005.9:g.39383615G>A, NG_030312.1:g.46721C>T

Select item 149042375418.

rs1490423754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:39394225 (GRCh38)
5:39394327 (GRCh37)
Canonical SPDI:: NC_000005.10:39394224:C:T
Gene:: DAB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.39394225C>T, NC_000005.9:g.39394327C>T, NG_030312.1:g.36009G>A

Select item 149040589219.

rs1490405892 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:39401682 (GRCh38)
5:39401784 (GRCh37)
Canonical SPDI:: NC_000005.10:39401681:T:G
Gene:: DAB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.39401682T>G, NC_000005.9:g.39401784T>G, NG_030312.1:g.28552A>C

Select item 149038306220.

rs1490383062 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:39418362 (GRCh38)
5:39418464 (GRCh37)
Canonical SPDI:: NC_000005.10:39418361:A:T
Gene:: DAB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.39418362A>T, NC_000005.9:g.39418464A>T, NG_030312.1:g.11872T>A

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