SNP Links for Gene (Select 593) - SNP

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Select item 14915179801.

rs1491517980 [Homo sapiens]

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

Select item 14915106292.

rs1491510629 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:41418091 (GRCh38)
19:41923996 (GRCh37)
Canonical SPDI:: NC_000019.10:41418090:CA:
Gene:: BCKDHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000019.10:g.41418091_41418092del, NC_000019.9:g.41923996_41923997del, NG_013004.1:g.25303_25304del

Select item 14914993423.

rs1491499342 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:41399353 (GRCh38)
19:41905258 (GRCh37)
Canonical SPDI:: NC_000019.10:41399352:TG:
Gene:: BCKDHA (Varview), EXOSC5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.41399353_41399354del, NC_000019.9:g.41905258_41905259del, NG_013004.1:g.6565_6566del

Select item 14914523414.

rs1491452341 has merged into rs66838098 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:41418100 (GRCh38)
19:41924005 (GRCh37)
Canonical SPDI:: NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:41418091:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BCKDHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41418100_41418116del, NC_000019.10:g.41418102_41418116del, NC_000019.10:g.41418103_41418116del, NC_000019.10:g.41418104_41418116del, NC_000019.10:g.41418105_41418116del, NC_000019.10:g.41418106_41418116del, NC_000019.10:g.41418109_41418116del, NC_000019.10:g.41418110_41418116del, NC_000019.10:g.41418111_41418116del, NC_000019.10:g.41418112_41418116del, NC_000019.10:g.41418113_41418116del, NC_000019.10:g.41418114_41418116del, NC_000019.10:g.41418115_41418116del, NC_000019.10:g.41418116del, NC_000019.10:g.41418116dup, NC_000019.10:g.41418115_41418116dup, NC_000019.10:g.41418114_41418116dup, NC_000019.10:g.41418112_41418116dup, NC_000019.10:g.41418111_41418116dup, NC_000019.10:g.41418104_41418116dup, NC_000019.10:g.41418102_41418116dup, NC_000019.10:g.41418099_41418116dup, NC_000019.9:g.41924005_41924021del, NC_000019.9:g.41924007_41924021del, NC_000019.9:g.41924008_41924021del, NC_000019.9:g.41924009_41924021del, NC_000019.9:g.41924010_41924021del, NC_000019.9:g.41924011_41924021del, NC_000019.9:g.41924014_41924021del, NC_000019.9:g.41924015_41924021del, NC_000019.9:g.41924016_41924021del, NC_000019.9:g.41924017_41924021del, NC_000019.9:g.41924018_41924021del, NC_000019.9:g.41924019_41924021del, NC_000019.9:g.41924020_41924021del, NC_000019.9:g.41924021del, NC_000019.9:g.41924021dup, NC_000019.9:g.41924020_41924021dup, NC_000019.9:g.41924019_41924021dup, NC_000019.9:g.41924017_41924021dup, NC_000019.9:g.41924016_41924021dup, NC_000019.9:g.41924009_41924021dup, NC_000019.9:g.41924007_41924021dup, NC_000019.9:g.41924004_41924021dup, NG_013004.1:g.25312_25328del, NG_013004.1:g.25314_25328del, NG_013004.1:g.25315_25328del, NG_013004.1:g.25316_25328del, NG_013004.1:g.25317_25328del, NG_013004.1:g.25318_25328del, NG_013004.1:g.25321_25328del, NG_013004.1:g.25322_25328del, NG_013004.1:g.25323_25328del, NG_013004.1:g.25324_25328del, NG_013004.1:g.25325_25328del, NG_013004.1:g.25326_25328del, NG_013004.1:g.25327_25328del, NG_013004.1:g.25328del, NG_013004.1:g.25328dup, NG_013004.1:g.25327_25328dup, NG_013004.1:g.25326_25328dup, NG_013004.1:g.25324_25328dup, NG_013004.1:g.25323_25328dup, NG_013004.1:g.25316_25328dup, NG_013004.1:g.25314_25328dup, NG_013004.1:g.25311_25328dup

Select item 14913936235.

rs1491393623 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:41409821 (GRCh38)
19:41915726 (GRCh37)
Canonical SPDI:: NC_000019.10:41409820:TG:
Gene:: BCKDHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00084/10 (ALFA)
HGVS:: NC_000019.10:g.41409821_41409822del, NC_000019.9:g.41915726_41915727del, NG_013004.1:g.17033_17034del

Select item 14913278336.

rs1491327833 [Homo sapiens]

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

Select item 14912301617.

rs1491230161 [Homo sapiens]

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

Select item 14909848288.

rs1490984828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41405044 (GRCh38)
19:41910949 (GRCh37)
Canonical SPDI:: NC_000019.10:41405043:C:T
Gene:: BCKDHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.41405044C>T, NC_000019.9:g.41910949C>T, NG_013004.1:g.12256C>T

Select item 14909100999.

rs1490910099 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:41422792 (GRCh38)
19:41928697 (GRCh37)
Canonical SPDI:: NC_000019.10:41422791:A:C
Gene:: BCKDHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.41422792A>C, NC_000019.9:g.41928697A>C, NG_013004.1:g.30004A>C

Select item 149089303010.

rs1490893030 has merged into rs1201986170 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:41406578 (GRCh38)
19:41912483 (GRCh37)
Canonical SPDI:: NC_000019.10:41406570:TTTTTTTTTTTTTTTTT:TTTTTTT,NC_000019.10:41406570:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:41406570:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:41406570:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:41406570:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:41406570:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:41406570:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:41406570:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:41406570:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BCKDHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.02649/444 (TOMMO)
HGVS:: NC_000019.10:g.41406578_41406587del, NC_000019.10:g.41406583_41406587del, NC_000019.10:g.41406585_41406587del, NC_000019.10:g.41406586_41406587del, NC_000019.10:g.41406587del, NC_000019.10:g.41406587dup, NC_000019.10:g.41406586_41406587dup, NC_000019.10:g.41406585_41406587dup, NC_000019.10:g.41406581_41406587dup, NC_000019.9:g.41912483_41912492del, NC_000019.9:g.41912488_41912492del, NC_000019.9:g.41912490_41912492del, NC_000019.9:g.41912491_41912492del, NC_000019.9:g.41912492del, NC_000019.9:g.41912492dup, NC_000019.9:g.41912491_41912492dup, NC_000019.9:g.41912490_41912492dup, NC_000019.9:g.41912486_41912492dup, NG_013004.1:g.13790_13799del, NG_013004.1:g.13795_13799del, NG_013004.1:g.13797_13799del, NG_013004.1:g.13798_13799del, NG_013004.1:g.13799del, NG_013004.1:g.13799dup, NG_013004.1:g.13798_13799dup, NG_013004.1:g.13797_13799dup, NG_013004.1:g.13793_13799dup

Select item 149074244311.

rs1490742443 has merged into rs201343587 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:41419755 (GRCh38)
19:41925660 (GRCh37)
Canonical SPDI:: NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41419746:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BCKDHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTTTTTTTTTTTT=0./0 (1000Genomes)
HGVS:: NC_000019.10:g.41419755_41419779del, NC_000019.10:g.41419756_41419779del, NC_000019.10:g.41419757_41419779del, NC_000019.10:g.41419758_41419779del, NC_000019.10:g.41419759_41419779del, NC_000019.10:g.41419760_41419779del, NC_000019.10:g.41419762_41419779del, NC_000019.10:g.41419763_41419779del, NC_000019.10:g.41419764_41419779del, NC_000019.10:g.41419765_41419779del, NC_000019.10:g.41419766_41419779del, NC_000019.10:g.41419767_41419779del, NC_000019.10:g.41419768_41419779del, NC_000019.10:g.41419771_41419779del, NC_000019.10:g.41419772_41419779del, NC_000019.10:g.41419773_41419779del, NC_000019.10:g.41419776_41419779del, NC_000019.10:g.41419777_41419779del, NC_000019.10:g.41419778_41419779del, NC_000019.10:g.41419779del, NC_000019.10:g.41419779dup, NC_000019.10:g.41419778_41419779dup, NC_000019.10:g.41419777_41419779dup, NC_000019.10:g.41419776_41419779dup, NC_000019.10:g.41419775_41419779dup, NC_000019.10:g.41419774_41419779dup, NC_000019.10:g.41419773_41419779dup, NC_000019.10:g.41419772_41419779dup, NC_000019.10:g.41419771_41419779dup, NC_000019.10:g.41419769_41419779dup, NC_000019.10:g.41419757_41419779dup, NC_000019.10:g.41419756_41419779dup, NC_000019.9:g.41925660_41925684del, NC_000019.9:g.41925661_41925684del, NC_000019.9:g.41925662_41925684del, NC_000019.9:g.41925663_41925684del, NC_000019.9:g.41925664_41925684del, NC_000019.9:g.41925665_41925684del, NC_000019.9:g.41925667_41925684del, NC_000019.9:g.41925668_41925684del, NC_000019.9:g.41925669_41925684del, NC_000019.9:g.41925670_41925684del, NC_000019.9:g.41925671_41925684del, NC_000019.9:g.41925672_41925684del, NC_000019.9:g.41925673_41925684del, NC_000019.9:g.41925676_41925684del, NC_000019.9:g.41925677_41925684del, NC_000019.9:g.41925678_41925684del, NC_000019.9:g.41925681_41925684del, NC_000019.9:g.41925682_41925684del, NC_000019.9:g.41925683_41925684del, NC_000019.9:g.41925684del, NC_000019.9:g.41925684dup, NC_000019.9:g.41925683_41925684dup, NC_000019.9:g.41925682_41925684dup, NC_000019.9:g.41925681_41925684dup, NC_000019.9:g.41925680_41925684dup, NC_000019.9:g.41925679_41925684dup, NC_000019.9:g.41925678_41925684dup, NC_000019.9:g.41925677_41925684dup, NC_000019.9:g.41925676_41925684dup, NC_000019.9:g.41925674_41925684dup, NC_000019.9:g.41925662_41925684dup, NC_000019.9:g.41925661_41925684dup, NG_013004.1:g.26967_26991del, NG_013004.1:g.26968_26991del, NG_013004.1:g.26969_26991del, NG_013004.1:g.26970_26991del, NG_013004.1:g.26971_26991del, NG_013004.1:g.26972_26991del, NG_013004.1:g.26974_26991del, NG_013004.1:g.26975_26991del, NG_013004.1:g.26976_26991del, NG_013004.1:g.26977_26991del, NG_013004.1:g.26978_26991del, NG_013004.1:g.26979_26991del, NG_013004.1:g.26980_26991del, NG_013004.1:g.26983_26991del, NG_013004.1:g.26984_26991del, NG_013004.1:g.26985_26991del, NG_013004.1:g.26988_26991del, NG_013004.1:g.26989_26991del, NG_013004.1:g.26990_26991del, NG_013004.1:g.26991del, NG_013004.1:g.26991dup, NG_013004.1:g.26990_26991dup, NG_013004.1:g.26989_26991dup, NG_013004.1:g.26988_26991dup, NG_013004.1:g.26987_26991dup, NG_013004.1:g.26986_26991dup, NG_013004.1:g.26985_26991dup, NG_013004.1:g.26984_26991dup, NG_013004.1:g.26983_26991dup, NG_013004.1:g.26981_26991dup, NG_013004.1:g.26969_26991dup, NG_013004.1:g.26968_26991dup

Select item 149059693112.

rs1490596931 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:41396897 (GRCh38)
19:41902802 (GRCh37)
Canonical SPDI:: NC_000019.10:41396896:T:G
Gene:: BCKDHA (Varview), EXOSC5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.41396897T>G, NC_000019.9:g.41902802T>G, NG_013004.1:g.4109T>G

Select item 149041823913.

rs1490418239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41423112 (GRCh38)
19:41929017 (GRCh37)
Canonical SPDI:: NC_000019.10:41423111:C:T
Gene:: BCKDHA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.41423112C>T, NC_000019.9:g.41929017C>T, NG_013004.1:g.30324C>T, NM_000709.4:c.1110C>T, NM_000709.3:c.1110C>T, NM_001164783.2:c.1107C>T, NM_001164783.1:c.1107C>T

Select item 149010536714.

rs1490105367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41418177 (GRCh38)
19:41924082 (GRCh37)
Canonical SPDI:: NC_000019.10:41418176:G:A
Gene:: BCKDHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41418177G>A, NC_000019.9:g.41924082G>A, NG_013004.1:g.25389G>A

Select item 149001966815.

rs1490019668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41403561 (GRCh38)
19:41909466 (GRCh37)
Canonical SPDI:: NC_000019.10:41403560:G:A
Gene:: BCKDHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.41403561G>A, NC_000019.9:g.41909466G>A, NG_013004.1:g.10773G>A

Select item 148996169616.

rs1489961696 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41424011 (GRCh38)
19:41929916 (GRCh37)
Canonical SPDI:: NC_000019.10:41424010:G:A
Gene:: BCKDHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
A=0.000625/4 (1000Genomes)
HGVS:: NC_000019.10:g.41424011G>A, NC_000019.9:g.41929916G>A, NG_013004.1:g.31223G>A

Select item 148970518117.

rs1489705181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:41397006 (GRCh38)
19:41902911 (GRCh37)
Canonical SPDI:: NC_000019.10:41397005:G:C
Gene:: BCKDHA (Varview), EXOSC5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.41397006G>C, NC_000019.9:g.41902911G>C, NG_013004.1:g.4218G>C

Select item 148968367018.

rs1489683670 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTC [Show Flanks]
Chromosome:: 19:41414161 (GRCh38)
19:41920067 (GRCh37)
Canonical SPDI:: NC_000019.10:41414161:GTCTGTC:GTCTGTCTGTC
Gene:: BCKDHA (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: GTCTGTCTGTC=0./0 (ALFA)
GTCT=0.000007/1 (GnomAD)
GTCT=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.41414165_41414168dup, NC_000019.9:g.41920070_41920073dup, NG_013004.1:g.21377_21380dup

Select item 148966537419.

rs1489665374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41407630 (GRCh38)
19:41913535 (GRCh37)
Canonical SPDI:: NC_000019.10:41407629:C:T
Gene:: BCKDHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.41407630C>T, NC_000019.9:g.41913535C>T, NG_013004.1:g.14842C>T

Select item 148963009120.

rs1489630091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41411915 (GRCh38)
19:41917820 (GRCh37)
Canonical SPDI:: NC_000019.10:41411914:C:T
Gene:: BCKDHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41411915C>T, NC_000019.9:g.41917820C>T, NG_013004.1:g.19127C>T

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