SNP Links for Gene (Select 10939) - SNP

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Select item 14915539661.

rs1491553966 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTTT [Show Flanks]
Chromosome:: 18:12349657 (GRCh38)
18:12349657 (GRCh37)
Canonical SPDI:: NC_000018.10:12349657:TGTTTTT:TGTTTTTGTTTTT
Gene:: AFG3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTTTTTGTTTTT=0./0 (ALFA)
TGTTTT=0.000029/4 (GnomAD)
TGTTTT=0.000034/9 (TOPMED)
HGVS:: NC_000018.10:g.12349659_12349664dup, NC_000018.9:g.12349658_12349663dup, NG_023361.1:g.32614_32619dup

Select item 14915536922.

rs1491553692 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 18:12367692 (GRCh38)
18:12367692 (GRCh37)
Canonical SPDI:: NC_000018.10:12367692:T:TT
Gene:: AFG3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.00005/7 (GnomAD)
T=0.000072/19 (TOPMED)
HGVS:: NC_000018.10:g.12367693dup, NC_000018.9:g.12367692dup, NG_023361.1:g.14584dup

Select item 14915124183.

rs1491512418 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 18:12356120 (GRCh38)
18:12356120 (GRCh37)
Canonical SPDI:: NC_000018.10:12356120::A
Gene:: AFG3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00032/23 (GnomAD)
HGVS:: NC_000018.10:g.12356120_12356121insA, NC_000018.9:g.12356119_12356120insA, NG_023361.1:g.26156_26157insT

Select item 14914793004.

rs1491479300 has merged into rs71369929 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 18:12355683 (GRCh38)
18:12355682 (GRCh37)
Canonical SPDI:: NC_000018.10:12355673:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000018.10:12355673:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:12355673:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:12355673:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:12355673:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:12355673:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: AFG3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
T=0.11/66 (NorthernSweden)
HGVS:: NC_000018.10:g.12355683_12355687del, NC_000018.10:g.12355686_12355687del, NC_000018.10:g.12355687del, NC_000018.10:g.12355687dup, NC_000018.10:g.12355686_12355687dup, NC_000018.10:g.12355680_12355687dup, NC_000018.9:g.12355682_12355686del, NC_000018.9:g.12355685_12355686del, NC_000018.9:g.12355686del, NC_000018.9:g.12355686dup, NC_000018.9:g.12355685_12355686dup, NC_000018.9:g.12355679_12355686dup, NG_023361.1:g.26599_26603del, NG_023361.1:g.26602_26603del, NG_023361.1:g.26603del, NG_023361.1:g.26603dup, NG_023361.1:g.26602_26603dup, NG_023361.1:g.26596_26603dup

Select item 14914578745.

rs1491457874 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 18:12367694 (GRCh38)
18:12367693 (GRCh37)
Canonical SPDI:: NC_000018.10:12367691:GTGT:GT
Gene:: AFG3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.12367692GT[1], NC_000018.9:g.12367691GT[1], NG_023361.1:g.14582AC[1]

Select item 14914283306.

rs1491428330 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 18:12356182 (GRCh38)
18:12356182 (GRCh37)
Canonical SPDI:: NC_000018.10:12356182:A:AA
Gene:: AFG3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000022/3 (GnomAD)
HGVS:: NC_000018.10:g.12356183dup, NC_000018.9:g.12356182dup, NG_023361.1:g.26094dup

Select item 14913950697.

rs1491395069 [Homo sapiens]

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

Select item 14913847038.

rs1491384703 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 18:12356120 (GRCh38)
18:12356119 (GRCh37)
Canonical SPDI:: NC_000018.10:12356119:CC:
Gene:: AFG3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0002/1 (ALFA)
HGVS:: NC_000018.10:g.12356120_12356121del, NC_000018.9:g.12356119_12356120del, NG_023361.1:g.26156_26157del

Select item 14913650969.

rs1491365096 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 18:12378607 (GRCh38)
18:12378606 (GRCh37)
Canonical SPDI:: NC_000018.10:12378606:TT:
Gene:: AFG3L2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00003/4 (GnomAD)
HGVS:: NC_000018.10:g.12378607_12378608del, NC_000018.9:g.12378606_12378607del, NG_023361.1:g.3669_3670del

Select item 149128529310.

rs1491285293 has merged into rs11303145 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAACTCTTACAATTAAACAAAAAAAAAAACCCAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:12355222 (GRCh38)
18:12355221 (GRCh37)
Canonical SPDI:: NC_000018.10:12355208:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:12355208:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:12355208:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:12355208:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:12355208:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAACTCTTACAATTAAACAAAAAAAAAAACCCAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: AFG3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.1764/654 (TWINSUK)
A=0.1866/719 (ALSPAC)
A=0.3014/176 (NorthernSweden)
A=0.35/14 (GENOME_DK)
-=0.3736/1871 (1000Genomes)
HGVS:: NC_000018.10:g.12355222_12355223del, NC_000018.10:g.12355223del, NC_000018.10:g.12355223dup, NC_000018.10:g.12355222_12355223dup, NC_000018.10:g.12355209_12355223A[17]CT[2]TACAATTAAACAAAAAAAAAAACCCAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.12355221_12355222del, NC_000018.9:g.12355222del, NC_000018.9:g.12355222dup, NC_000018.9:g.12355221_12355222dup, NC_000018.9:g.12355208_12355222A[17]CT[2]TACAATTAAACAAAAAAAAAAACCCAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023361.1:g.27067_27068del, NG_023361.1:g.27068del, NG_023361.1:g.27068dup, NG_023361.1:g.27067_27068dup, NG_023361.1:g.27054_27068T[24]GGGTTTTTTTTTTTGTTTAATTGTAAGAGTTTTTTTTTTTTTTTTT[1]

Select item 149125588911.

rs1491255889 has merged into rs539968042 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:12339248 (GRCh38)
18:12339247 (GRCh37)
Canonical SPDI:: NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: AFG3L2 (Varview), LOC107985154 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000083/22 (TOPMED)
HGVS:: NC_000018.10:g.12339248_12339262del, NC_000018.10:g.12339249_12339262del, NC_000018.10:g.12339250_12339262del, NC_000018.10:g.12339251_12339262del, NC_000018.10:g.12339252_12339262del, NC_000018.10:g.12339253_12339262del, NC_000018.10:g.12339254_12339262del, NC_000018.10:g.12339255_12339262del, NC_000018.10:g.12339256_12339262del, NC_000018.10:g.12339257_12339262del, NC_000018.10:g.12339258_12339262del, NC_000018.10:g.12339259_12339262del, NC_000018.10:g.12339260_12339262del, NC_000018.10:g.12339261_12339262del, NC_000018.10:g.12339262del, NC_000018.10:g.12339262dup, NC_000018.10:g.12339261_12339262dup, NC_000018.10:g.12339260_12339262dup, NC_000018.10:g.12339259_12339262dup, NC_000018.10:g.12339258_12339262dup, NC_000018.10:g.12339256_12339262dup, NC_000018.10:g.12339255_12339262dup, NC_000018.10:g.12339254_12339262dup, NC_000018.9:g.12339247_12339261del, NC_000018.9:g.12339248_12339261del, NC_000018.9:g.12339249_12339261del, NC_000018.9:g.12339250_12339261del, NC_000018.9:g.12339251_12339261del, NC_000018.9:g.12339252_12339261del, NC_000018.9:g.12339253_12339261del, NC_000018.9:g.12339254_12339261del, NC_000018.9:g.12339255_12339261del, NC_000018.9:g.12339256_12339261del, NC_000018.9:g.12339257_12339261del, NC_000018.9:g.12339258_12339261del, NC_000018.9:g.12339259_12339261del, NC_000018.9:g.12339260_12339261del, NC_000018.9:g.12339261del, NC_000018.9:g.12339261dup, NC_000018.9:g.12339260_12339261dup, NC_000018.9:g.12339259_12339261dup, NC_000018.9:g.12339258_12339261dup, NC_000018.9:g.12339257_12339261dup, NC_000018.9:g.12339255_12339261dup, NC_000018.9:g.12339254_12339261dup, NC_000018.9:g.12339253_12339261dup, NG_023361.1:g.43026_43040del, NG_023361.1:g.43027_43040del, NG_023361.1:g.43028_43040del, NG_023361.1:g.43029_43040del, NG_023361.1:g.43030_43040del, NG_023361.1:g.43031_43040del, NG_023361.1:g.43032_43040del, NG_023361.1:g.43033_43040del, NG_023361.1:g.43034_43040del, NG_023361.1:g.43035_43040del, NG_023361.1:g.43036_43040del, NG_023361.1:g.43037_43040del, NG_023361.1:g.43038_43040del, NG_023361.1:g.43039_43040del, NG_023361.1:g.43040del, NG_023361.1:g.43040dup, NG_023361.1:g.43039_43040dup, NG_023361.1:g.43038_43040dup, NG_023361.1:g.43037_43040dup, NG_023361.1:g.43036_43040dup, NG_023361.1:g.43034_43040dup, NG_023361.1:g.43033_43040dup, NG_023361.1:g.43032_43040dup

Select item 149125535312.

rs1491255353 has merged into rs71172076 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:12353524 (GRCh38)
18:12353523 (GRCh37)
Canonical SPDI:: NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: AFG3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.12353524_12353538del, NC_000018.10:g.12353528_12353538del, NC_000018.10:g.12353529_12353538del, NC_000018.10:g.12353530_12353538del, NC_000018.10:g.12353531_12353538del, NC_000018.10:g.12353532_12353538del, NC_000018.10:g.12353533_12353538del, NC_000018.10:g.12353534_12353538del, NC_000018.10:g.12353535_12353538del, NC_000018.10:g.12353536_12353538del, NC_000018.10:g.12353537_12353538del, NC_000018.10:g.12353538del, NC_000018.10:g.12353538dup, NC_000018.10:g.12353537_12353538dup, NC_000018.10:g.12353536_12353538dup, NC_000018.10:g.12353535_12353538dup, NC_000018.10:g.12353534_12353538dup, NC_000018.10:g.12353531_12353538dup, NC_000018.10:g.12353530_12353538dup, NC_000018.10:g.12353529_12353538dup, NC_000018.10:g.12353528_12353538dup, NC_000018.10:g.12353527_12353538dup, NC_000018.10:g.12353526_12353538dup, NC_000018.10:g.12353524_12353538dup, NC_000018.10:g.12353520_12353538dup, NC_000018.10:g.12353538_12353539insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.12353538_12353539insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.12353538_12353539insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.12353538_12353539insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.12353538_12353539insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.12353538_12353539insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.12353515_12353538A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.10:g.12353515_12353538A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.12353523_12353537del, NC_000018.9:g.12353527_12353537del, NC_000018.9:g.12353528_12353537del, NC_000018.9:g.12353529_12353537del, NC_000018.9:g.12353530_12353537del, NC_000018.9:g.12353531_12353537del, NC_000018.9:g.12353532_12353537del, NC_000018.9:g.12353533_12353537del, NC_000018.9:g.12353534_12353537del, NC_000018.9:g.12353535_12353537del, NC_000018.9:g.12353536_12353537del, NC_000018.9:g.12353537del, NC_000018.9:g.12353537dup, NC_000018.9:g.12353536_12353537dup, NC_000018.9:g.12353535_12353537dup, NC_000018.9:g.12353534_12353537dup, NC_000018.9:g.12353533_12353537dup, NC_000018.9:g.12353530_12353537dup, NC_000018.9:g.12353529_12353537dup, NC_000018.9:g.12353528_12353537dup, NC_000018.9:g.12353527_12353537dup, NC_000018.9:g.12353526_12353537dup, NC_000018.9:g.12353525_12353537dup, NC_000018.9:g.12353523_12353537dup, NC_000018.9:g.12353519_12353537dup, NC_000018.9:g.12353537_12353538insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.12353537_12353538insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.12353537_12353538insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.12353537_12353538insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.12353537_12353538insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.12353537_12353538insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.12353514_12353537A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.12353514_12353537A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023361.1:g.28748_28762del, NG_023361.1:g.28752_28762del, NG_023361.1:g.28753_28762del, NG_023361.1:g.28754_28762del, NG_023361.1:g.28755_28762del, NG_023361.1:g.28756_28762del, NG_023361.1:g.28757_28762del, NG_023361.1:g.28758_28762del, NG_023361.1:g.28759_28762del, NG_023361.1:g.28760_28762del, NG_023361.1:g.28761_28762del, NG_023361.1:g.28762del, NG_023361.1:g.28762dup, NG_023361.1:g.28761_28762dup, NG_023361.1:g.28760_28762dup, NG_023361.1:g.28759_28762dup, NG_023361.1:g.28758_28762dup, NG_023361.1:g.28755_28762dup, NG_023361.1:g.28754_28762dup, NG_023361.1:g.28753_28762dup, NG_023361.1:g.28752_28762dup, NG_023361.1:g.28751_28762dup, NG_023361.1:g.28750_28762dup, NG_023361.1:g.28748_28762dup, NG_023361.1:g.28744_28762dup, NG_023361.1:g.28762_28763insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023361.1:g.28762_28763insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023361.1:g.28762_28763insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023361.1:g.28762_28763insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023361.1:g.28762_28763insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023361.1:g.28762_28763insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023361.1:g.28739_28762T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_023361.1:g.28739_28762T[49]CTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 149123645513.

rs1491236455 has merged into rs35013811 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:12346913 (GRCh38)
18:12346912 (GRCh37)
Canonical SPDI:: NC_000018.10:12346903:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:12346903:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:12346903:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:12346903:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:12346903:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:12346903:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:12346903:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:12346903:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:12346903:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12346903:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12346903:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12346903:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12346903:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12346903:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12346903:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:12346903:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: AFG3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000018.10:g.12346913_12346927del, NC_000018.10:g.12346915_12346927del, NC_000018.10:g.12346916_12346927del, NC_000018.10:g.12346920_12346927del, NC_000018.10:g.12346921_12346927del, NC_000018.10:g.12346922_12346927del, NC_000018.10:g.12346923_12346927del, NC_000018.10:g.12346924_12346927del, NC_000018.10:g.12346925_12346927del, NC_000018.10:g.12346926_12346927del, NC_000018.10:g.12346927del, NC_000018.10:g.12346927dup, NC_000018.10:g.12346926_12346927dup, NC_000018.10:g.12346925_12346927dup, NC_000018.10:g.12346923_12346927dup, NC_000018.10:g.12346914_12346927dup, NC_000018.9:g.12346912_12346926del, NC_000018.9:g.12346914_12346926del, NC_000018.9:g.12346915_12346926del, NC_000018.9:g.12346919_12346926del, NC_000018.9:g.12346920_12346926del, NC_000018.9:g.12346921_12346926del, NC_000018.9:g.12346922_12346926del, NC_000018.9:g.12346923_12346926del, NC_000018.9:g.12346924_12346926del, NC_000018.9:g.12346925_12346926del, NC_000018.9:g.12346926del, NC_000018.9:g.12346926dup, NC_000018.9:g.12346925_12346926dup, NC_000018.9:g.12346924_12346926dup, NC_000018.9:g.12346922_12346926dup, NC_000018.9:g.12346913_12346926dup, NG_023361.1:g.35359_35373del, NG_023361.1:g.35361_35373del, NG_023361.1:g.35362_35373del, NG_023361.1:g.35366_35373del, NG_023361.1:g.35367_35373del, NG_023361.1:g.35368_35373del, NG_023361.1:g.35369_35373del, NG_023361.1:g.35370_35373del, NG_023361.1:g.35371_35373del, NG_023361.1:g.35372_35373del, NG_023361.1:g.35373del, NG_023361.1:g.35373dup, NG_023361.1:g.35372_35373dup, NG_023361.1:g.35371_35373dup, NG_023361.1:g.35369_35373dup, NG_023361.1:g.35360_35373dup

Select item 149121670214.

rs1491216702 has merged into rs1208102421 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAATATATA>-,TAATATATATAATATATA [Show Flanks]
Chromosome:: 18:12333142 (GRCh38)
18:12333141 (GRCh37)
Canonical SPDI:: NC_000018.10:12333125:ATATATATAATATATATAATATATA:ATATATATAATATATA,NC_000018.10:12333125:ATATATATAATATATATAATATATA:ATATATATAATATATATAATATATATAATATATA
Gene:: AFG3L2 (Varview), LOC107985154 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATAATATATATAATATATATAATATATA=0./0 (ALFA)
ATATATATA=0.000004/1 (TOPMED)
-=0.000061/1 (TOMMO)
-=0.000522/27 (GnomAD)
-=0.008264/4 (NorthernSweden)
HGVS:: NC_000018.10:g.12333133TAATATATA[1], NC_000018.10:g.12333133TAATATATA[3], NC_000018.9:g.12333132TAATATATA[1], NC_000018.9:g.12333132TAATATATA[3], NG_023361.1:g.49134TATATATAT[1], NG_023361.1:g.49134TATATATAT[3]

Select item 149119817815.

rs1491198178 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 18:12355208 (GRCh38)
18:12355207 (GRCh37)
Canonical SPDI:: NC_000018.10:12355207:TA:
Gene:: AFG3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.12355208_12355209del, NC_000018.9:g.12355207_12355208del, NG_023361.1:g.27068_27069del

Select item 149119810916.

rs1491198109 has merged into rs1555672008 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 18:12354143 (GRCh38)
18:12354142 (GRCh37)
Canonical SPDI:: NC_000018.10:12354132:CCCCCCCCCCCCC:CCCCCCCCCC,NC_000018.10:12354132:CCCCCCCCCCCCC:CCCCCCCCCCC,NC_000018.10:12354132:CCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000018.10:12354132:CCCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000018.10:12354132:CCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000018.10:12354132:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000018.10:12354132:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000018.10:12354132:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000018.10:12354132:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000018.10:12354132:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000018.10:12354132:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000018.10:12354132:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC,NC_000018.10:12354132:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000018.10:12354132:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: AFG3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCC=0./0 (ALFA)
-=0.02966/14 (NorthernSweden)
HGVS:: NC_000018.10:g.12354143_12354145del, NC_000018.10:g.12354144_12354145del, NC_000018.10:g.12354145del, NC_000018.10:g.12354145dup, NC_000018.10:g.12354144_12354145dup, NC_000018.10:g.12354143_12354145dup, NC_000018.10:g.12354142_12354145dup, NC_000018.10:g.12354140_12354145dup, NC_000018.10:g.12354138_12354145dup, NC_000018.10:g.12354137_12354145dup, NC_000018.10:g.12354136_12354145dup, NC_000018.10:g.12354134_12354145dup, NC_000018.10:g.12354133_12354145dup, NC_000018.10:g.12354145_12354146insCCCCCCCCCCCCCC, NC_000018.9:g.12354142_12354144del, NC_000018.9:g.12354143_12354144del, NC_000018.9:g.12354144del, NC_000018.9:g.12354144dup, NC_000018.9:g.12354143_12354144dup, NC_000018.9:g.12354142_12354144dup, NC_000018.9:g.12354141_12354144dup, NC_000018.9:g.12354139_12354144dup, NC_000018.9:g.12354137_12354144dup, NC_000018.9:g.12354136_12354144dup, NC_000018.9:g.12354135_12354144dup, NC_000018.9:g.12354133_12354144dup, NC_000018.9:g.12354132_12354144dup, NC_000018.9:g.12354144_12354145insCCCCCCCCCCCCCC, NG_023361.1:g.28142_28144del, NG_023361.1:g.28143_28144del, NG_023361.1:g.28144del, NG_023361.1:g.28144dup, NG_023361.1:g.28143_28144dup, NG_023361.1:g.28142_28144dup, NG_023361.1:g.28141_28144dup, NG_023361.1:g.28139_28144dup, NG_023361.1:g.28137_28144dup, NG_023361.1:g.28136_28144dup, NG_023361.1:g.28135_28144dup, NG_023361.1:g.28133_28144dup, NG_023361.1:g.28132_28144dup, NG_023361.1:g.28144_28145insGGGGGGGGGGGGGG

Select item 149118177917.

rs1491181779 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 18:12347555 (GRCh38)
18:12347555 (GRCh37)
Canonical SPDI:: NC_000018.10:12347555::CA
Gene:: AFG3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CA=0.00118/14 (ALFA)
HGVS:: NC_000018.10:g.12347555_12347556insCA, NC_000018.9:g.12347554_12347555insCA, NG_023361.1:g.34721_34722insTG

Select item 149116703818.

rs1491167038 has merged into rs34215474 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 18:12347565 (GRCh38)
18:12347564 (GRCh37)
Canonical SPDI:: NC_000018.10:12347554:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000018.10:12347554:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:12347554:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:12347554:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:12347554:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:12347554:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:12347554:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: AFG3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.2188/1096 (1000Genomes)
T=0.25/10 (GENOME_DK)
HGVS:: NC_000018.10:g.12347565_12347568del, NC_000018.10:g.12347566_12347568del, NC_000018.10:g.12347567_12347568del, NC_000018.10:g.12347568del, NC_000018.10:g.12347568dup, NC_000018.10:g.12347567_12347568dup, NC_000018.10:g.12347558_12347568dup, NC_000018.9:g.12347564_12347567del, NC_000018.9:g.12347565_12347567del, NC_000018.9:g.12347566_12347567del, NC_000018.9:g.12347567del, NC_000018.9:g.12347567dup, NC_000018.9:g.12347566_12347567dup, NC_000018.9:g.12347557_12347567dup, NG_023361.1:g.34719_34722del, NG_023361.1:g.34720_34722del, NG_023361.1:g.34721_34722del, NG_023361.1:g.34722del, NG_023361.1:g.34722dup, NG_023361.1:g.34721_34722dup, NG_023361.1:g.34712_34722dup

Select item 149115967419.

rs1491159674 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA [Show Flanks]
Chromosome:: 18:12378607 (GRCh38)
18:12378607 (GRCh37)
Canonical SPDI:: NC_000018.10:12378607::AA
Gene:: AFG3L2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: AA=0.013898/89 (1000Genomes)
AA=0.013935/1894 (GnomAD)
HGVS:: NC_000018.10:g.12378607_12378608insAA, NC_000018.9:g.12378606_12378607insAA, NG_023361.1:g.3669_3670insTT

Select item 149114445920.

rs1491144459 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:12346903 (GRCh38)
18:12346902 (GRCh37)
Canonical SPDI:: NC_000018.10:12346902:CA:
Gene:: AFG3L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00152/18 (ALFA)
-=0.00136/38 (TOMMO)
HGVS:: NC_000018.10:g.12346903_12346904del, NC_000018.9:g.12346902_12346903del, NG_023361.1:g.35373_35374del

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