SNP Links for Gene (Select 57403) - SNP

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Select item 14915800351.

rs1491580035 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 20:58308212 (GRCh38)
20:56883269 (GRCh37)
Canonical SPDI:: NC_000020.11:58308212::G
Gene:: PPP4R1L (Varview), RAB22A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.58308212_58308213insG, NC_000020.10:g.56883268_56883269insG

Select item 14915386352.

rs1491538635 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 20:58309555 (GRCh38)
20:56884611 (GRCh37)
Canonical SPDI:: NC_000020.11:58309554:AG:
Gene:: PPP4R1L (Varview), RAB22A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000020.11:g.58309555_58309556del, NC_000020.10:g.56884611_56884612del

Select item 14915011453.

rs1491501145 has merged into rs35819954 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:58317564 (GRCh38)
20:56892620 (GRCh37)
Canonical SPDI:: NC_000020.11:58317556:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000020.11:58317556:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000020.11:58317556:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:58317556:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:58317556:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:58317556:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:58317556:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:58317556:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:58317556:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:58317556:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:58317556:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:58317556:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:58317556:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:58317556:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:58317556:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:58317556:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RAB22A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.095/57 (NorthernSweden)
HGVS:: NC_000020.11:g.58317564_58317576del, NC_000020.11:g.58317565_58317576del, NC_000020.11:g.58317567_58317576del, NC_000020.11:g.58317568_58317576del, NC_000020.11:g.58317570_58317576del, NC_000020.11:g.58317572_58317576del, NC_000020.11:g.58317573_58317576del, NC_000020.11:g.58317574_58317576del, NC_000020.11:g.58317575_58317576del, NC_000020.11:g.58317576del, NC_000020.11:g.58317576dup, NC_000020.11:g.58317575_58317576dup, NC_000020.11:g.58317574_58317576dup, NC_000020.11:g.58317573_58317576dup, NC_000020.11:g.58317572_58317576dup, NC_000020.11:g.58317571_58317576dup, NC_000020.10:g.56892620_56892632del, NC_000020.10:g.56892621_56892632del, NC_000020.10:g.56892623_56892632del, NC_000020.10:g.56892624_56892632del, NC_000020.10:g.56892626_56892632del, NC_000020.10:g.56892628_56892632del, NC_000020.10:g.56892629_56892632del, NC_000020.10:g.56892630_56892632del, NC_000020.10:g.56892631_56892632del, NC_000020.10:g.56892632del, NC_000020.10:g.56892632dup, NC_000020.10:g.56892631_56892632dup, NC_000020.10:g.56892630_56892632dup, NC_000020.10:g.56892629_56892632dup, NC_000020.10:g.56892628_56892632dup, NC_000020.10:g.56892627_56892632dup

Select item 14913945064.

rs1491394506 has merged into rs71181961 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:58308221 (GRCh38)
20:56883277 (GRCh37)
Canonical SPDI:: NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:58308211:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPP4R1L (Varview), RAB22A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000147/39 (TOPMED)
-=0.5/20 (GENOME_DK)
HGVS:: NC_000020.11:g.58308221_58308233del, NC_000020.11:g.58308222_58308233del, NC_000020.11:g.58308223_58308233del, NC_000020.11:g.58308224_58308233del, NC_000020.11:g.58308225_58308233del, NC_000020.11:g.58308226_58308233del, NC_000020.11:g.58308227_58308233del, NC_000020.11:g.58308228_58308233del, NC_000020.11:g.58308229_58308233del, NC_000020.11:g.58308230_58308233del, NC_000020.11:g.58308231_58308233del, NC_000020.11:g.58308232_58308233del, NC_000020.11:g.58308233del, NC_000020.11:g.58308233dup, NC_000020.11:g.58308232_58308233dup, NC_000020.11:g.58308231_58308233dup, NC_000020.11:g.58308230_58308233dup, NC_000020.11:g.58308229_58308233dup, NC_000020.11:g.58308228_58308233dup, NC_000020.11:g.58308227_58308233dup, NC_000020.11:g.58308226_58308233dup, NC_000020.11:g.58308218_58308233dup, NC_000020.10:g.56883277_56883289del, NC_000020.10:g.56883278_56883289del, NC_000020.10:g.56883279_56883289del, NC_000020.10:g.56883280_56883289del, NC_000020.10:g.56883281_56883289del, NC_000020.10:g.56883282_56883289del, NC_000020.10:g.56883283_56883289del, NC_000020.10:g.56883284_56883289del, NC_000020.10:g.56883285_56883289del, NC_000020.10:g.56883286_56883289del, NC_000020.10:g.56883287_56883289del, NC_000020.10:g.56883288_56883289del, NC_000020.10:g.56883289del, NC_000020.10:g.56883289dup, NC_000020.10:g.56883288_56883289dup, NC_000020.10:g.56883287_56883289dup, NC_000020.10:g.56883286_56883289dup, NC_000020.10:g.56883285_56883289dup, NC_000020.10:g.56883284_56883289dup, NC_000020.10:g.56883283_56883289dup, NC_000020.10:g.56883282_56883289dup, NC_000020.10:g.56883274_56883289dup

Select item 14913209275.

rs1491320927 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATT [Show Flanks]
Chromosome:: 20:58317557 (GRCh38)
20:56892614 (GRCh37)
Canonical SPDI:: NC_000020.11:58317557:TT:TTATT
Gene:: RAB22A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTATT=0./0 (ALFA)
HGVS:: NC_000020.11:g.58317559_58317560insATT, NC_000020.10:g.56892615_56892616insATT

Select item 14912939556.

rs1491293955 has merged into rs10709063 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:58342661 (GRCh38)
20:56917717 (GRCh37)
Canonical SPDI:: NC_000020.11:58342648:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:58342648:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:58342648:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:58342648:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:58342648:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:58342648:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:58342648:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:58342648:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:58342648:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:58342648:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RAB22A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0739/285 (ALSPAC)
-=0.3261/1633 (1000Genomes)
A=0.475/19 (GENOME_DK)
HGVS:: NC_000020.11:g.58342661_58342665del, NC_000020.11:g.58342662_58342665del, NC_000020.11:g.58342663_58342665del, NC_000020.11:g.58342664_58342665del, NC_000020.11:g.58342665del, NC_000020.11:g.58342665dup, NC_000020.11:g.58342664_58342665dup, NC_000020.11:g.58342663_58342665dup, NC_000020.11:g.58342659_58342665dup, NC_000020.11:g.58342657_58342665dup, NC_000020.10:g.56917717_56917721del, NC_000020.10:g.56917718_56917721del, NC_000020.10:g.56917719_56917721del, NC_000020.10:g.56917720_56917721del, NC_000020.10:g.56917721del, NC_000020.10:g.56917721dup, NC_000020.10:g.56917720_56917721dup, NC_000020.10:g.56917719_56917721dup, NC_000020.10:g.56917715_56917721dup, NC_000020.10:g.56917713_56917721dup

Select item 14912406937.

rs1491240693 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 20:58309555 (GRCh38)
20:56884612 (GRCh37)
Canonical SPDI:: NC_000020.11:58309555:GGGG:GGGGG
Gene:: PPP4R1L (Varview), RAB22A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.58309559dup, NC_000020.10:g.56884615dup

Select item 14912090768.

rs1491209076 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:58342648 (GRCh38)
20:56917704 (GRCh37)
Canonical SPDI:: NC_000020.11:58342647:CA:
Gene:: RAB22A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.58342648_58342649del, NC_000020.10:g.56917704_56917705del

Select item 14911745779.

rs1491174577 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:58324865 (GRCh38)
20:56899921 (GRCh37)
Canonical SPDI:: NC_000020.11:58324864:CA:
Gene:: RAB22A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.58324865_58324866del, NC_000020.10:g.56899921_56899922del

Select item 149101515710.

rs1491015157 has merged into rs3069388 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:58359507 (GRCh38)
20:56934563 (GRCh37)
Canonical SPDI:: NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:58359495:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RAB22A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.2891/1072 (TWINSUK)
TT=0.3101/1195 (ALSPAC)
-=0.3962/1984 (1000Genomes)
HGVS:: NC_000020.11:g.58359507_58359513del, NC_000020.11:g.58359509_58359513del, NC_000020.11:g.58359510_58359513del, NC_000020.11:g.58359511_58359513del, NC_000020.11:g.58359512_58359513del, NC_000020.11:g.58359513del, NC_000020.11:g.58359513dup, NC_000020.11:g.58359512_58359513dup, NC_000020.11:g.58359511_58359513dup, NC_000020.11:g.58359510_58359513dup, NC_000020.11:g.58359509_58359513dup, NC_000020.11:g.58359506_58359513dup, NC_000020.10:g.56934563_56934569del, NC_000020.10:g.56934565_56934569del, NC_000020.10:g.56934566_56934569del, NC_000020.10:g.56934567_56934569del, NC_000020.10:g.56934568_56934569del, NC_000020.10:g.56934569del, NC_000020.10:g.56934569dup, NC_000020.10:g.56934568_56934569dup, NC_000020.10:g.56934567_56934569dup, NC_000020.10:g.56934566_56934569dup, NC_000020.10:g.56934565_56934569dup, NC_000020.10:g.56934562_56934569dup

Select item 149096762211.

rs1490967622 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:58352539 (GRCh38)
20:56927595 (GRCh37)
Canonical SPDI:: NC_000020.11:58352538:T:C
Gene:: RAB22A (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_000020.11:g.58352539T>C, NC_000020.10:g.56927595T>C

Select item 149084192812.

rs1490841928 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:58354256 (GRCh38)
20:56929312 (GRCh37)
Canonical SPDI:: NC_000020.11:58354255:A:G
Gene:: RAB22A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.58354256A>G, NC_000020.10:g.56929312A>G, NM_020673.3:c.478A>G, NM_020673.2:c.478A>G, NP_065724.1:p.Ile160Val

Select item 149084137613.

rs1490841376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:58336073 (GRCh38)
20:56911129 (GRCh37)
Canonical SPDI:: NC_000020.11:58336072:G:A,NC_000020.11:58336072:G:C
Gene:: RAB22A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000020.11:g.58336073G>A, NC_000020.11:g.58336073G>C, NC_000020.10:g.56911129G>A, NC_000020.10:g.56911129G>C

Select item 149081005614.

rs1490810056 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:58307954 (GRCh38)
20:56883010 (GRCh37)
Canonical SPDI:: NC_000020.11:58307953:A:T
Gene:: PPP4R1L (Varview), RAB22A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.58307954A>T, NC_000020.10:g.56883010A>T

Select item 149074144615.

rs1490741446 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:58329153 (GRCh38)
20:56904209 (GRCh37)
Canonical SPDI:: NC_000020.11:58329152:A:G
Gene:: RAB22A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.58329153A>G, NC_000020.10:g.56904209A>G

Select item 149069730316.

rs1490697303 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:58345129 (GRCh38)
20:56920186 (GRCh37)
Canonical SPDI:: NC_000020.11:58345129:A:AA
Gene:: RAB22A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.58345130dup, NC_000020.10:g.56920186dup

Select item 149068468917.

rs1490684689 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:58340612 (GRCh38)
20:56915668 (GRCh37)
Canonical SPDI:: NC_000020.11:58340611:C:G,NC_000020.11:58340611:C:T
Gene:: RAB22A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000020.11:g.58340612C>G, NC_000020.11:g.58340612C>T, NC_000020.10:g.56915668C>G, NC_000020.10:g.56915668C>T

Select item 149066843018.

rs1490668430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:58314736 (GRCh38)
20:56889792 (GRCh37)
Canonical SPDI:: NC_000020.11:58314735:G:A
Gene:: RAB22A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.58314736G>A, NC_000020.10:g.56889792G>A

Select item 149052094219.

rs1490520942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:58313727 (GRCh38)
20:56888783 (GRCh37)
Canonical SPDI:: NC_000020.11:58313726:G:C
Gene:: RAB22A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.58313727G>C, NC_000020.10:g.56888783G>C

Select item 149050250020.

rs1490502500 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:58336551 (GRCh38)
20:56911607 (GRCh37)
Canonical SPDI:: NC_000020.11:58336550:G:C
Gene:: RAB22A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000045/12 (TOPMED)
HGVS:: NC_000020.11:g.58336551G>C, NC_000020.10:g.56911607G>C

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