SNP Links for Gene (Select 1528) - SNP

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Select item 14915846291.

rs1491584629 has merged into rs58176740 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:74285853 (GRCh38)
18:71953088 (GRCh37)
Canonical SPDI:: NC_000018.10:74285843:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:74285843:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:74285843:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:74285843:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:74285843:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:74285843:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:74285843:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:74285843:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:74285843:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:74285843:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:74285843:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:74285843:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:74285843:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:74285843:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:74285843:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:74285843:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:74285843:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:74285843:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:74285843:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CYB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.00003/8 (TOPMED)
HGVS:: NC_000018.10:g.74285853_74285865del, NC_000018.10:g.74285854_74285865del, NC_000018.10:g.74285856_74285865del, NC_000018.10:g.74285857_74285865del, NC_000018.10:g.74285858_74285865del, NC_000018.10:g.74285859_74285865del, NC_000018.10:g.74285860_74285865del, NC_000018.10:g.74285861_74285865del, NC_000018.10:g.74285862_74285865del, NC_000018.10:g.74285863_74285865del, NC_000018.10:g.74285864_74285865del, NC_000018.10:g.74285865del, NC_000018.10:g.74285865dup, NC_000018.10:g.74285864_74285865dup, NC_000018.10:g.74285863_74285865dup, NC_000018.10:g.74285862_74285865dup, NC_000018.10:g.74285860_74285865dup, NC_000018.10:g.74285859_74285865dup, NC_000018.10:g.74285858_74285865dup, NC_000018.9:g.71953088_71953100del, NC_000018.9:g.71953089_71953100del, NC_000018.9:g.71953091_71953100del, NC_000018.9:g.71953092_71953100del, NC_000018.9:g.71953093_71953100del, NC_000018.9:g.71953094_71953100del, NC_000018.9:g.71953095_71953100del, NC_000018.9:g.71953096_71953100del, NC_000018.9:g.71953097_71953100del, NC_000018.9:g.71953098_71953100del, NC_000018.9:g.71953099_71953100del, NC_000018.9:g.71953100del, NC_000018.9:g.71953100dup, NC_000018.9:g.71953099_71953100dup, NC_000018.9:g.71953098_71953100dup, NC_000018.9:g.71953097_71953100dup, NC_000018.9:g.71953095_71953100dup, NC_000018.9:g.71953094_71953100dup, NC_000018.9:g.71953093_71953100dup, NG_023211.1:g.11131_11143del, NG_023211.1:g.11132_11143del, NG_023211.1:g.11134_11143del, NG_023211.1:g.11135_11143del, NG_023211.1:g.11136_11143del, NG_023211.1:g.11137_11143del, NG_023211.1:g.11138_11143del, NG_023211.1:g.11139_11143del, NG_023211.1:g.11140_11143del, NG_023211.1:g.11141_11143del, NG_023211.1:g.11142_11143del, NG_023211.1:g.11143del, NG_023211.1:g.11143dup, NG_023211.1:g.11142_11143dup, NG_023211.1:g.11141_11143dup, NG_023211.1:g.11140_11143dup, NG_023211.1:g.11138_11143dup, NG_023211.1:g.11137_11143dup, NG_023211.1:g.11136_11143dup

Select item 14915187042.

rs1491518704 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 18:74266836 (GRCh38)
18:71934071 (GRCh37)
Canonical SPDI:: NC_000018.10:74266835:CT:
Gene:: CYB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00166/27 (ALFA)
HGVS:: NC_000018.10:g.74266836_74266837del, NC_000018.9:g.71934071_71934072del, NG_023211.1:g.30150_30151del

Select item 14915134023.

rs1491513402 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 18:74266836 (GRCh38)
18:71934072 (GRCh37)
Canonical SPDI:: NC_000018.10:74266836::A,NC_000018.10:74266836::AA
Gene:: CYB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00077/9 (ALFA)
HGVS:: NC_000018.10:g.74266836_74266837insA, NC_000018.10:g.74266836_74266837insAA, NC_000018.9:g.71934071_71934072insA, NC_000018.9:g.71934071_71934072insAA, NG_023211.1:g.30150_30151insT, NG_023211.1:g.30150_30151insTT

Select item 14914318424.

rs1491431842 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:74285843 (GRCh38)
18:71953078 (GRCh37)
Canonical SPDI:: NC_000018.10:74285842:CA:
Gene:: CYB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000018.10:g.74285843_74285844del, NC_000018.9:g.71953078_71953079del, NG_023211.1:g.11143_11144del

Select item 14914277775.

rs1491427777 has merged into rs35917281 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 18:74254414 (GRCh38)
18:71921649 (GRCh37)
Canonical SPDI:: NC_000018.10:74254401:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:74254401:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:74254401:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:74254401:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:74254401:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:74254401:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:74254401:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:74254401:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: CYB5A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.3173/1589 (1000Genomes)
HGVS:: NC_000018.10:g.74254414_74254419del, NC_000018.10:g.74254415_74254419del, NC_000018.10:g.74254416_74254419del, NC_000018.10:g.74254417_74254419del, NC_000018.10:g.74254418_74254419del, NC_000018.10:g.74254419del, NC_000018.10:g.74254419dup, NC_000018.10:g.74254418_74254419dup, NC_000018.9:g.71921649_71921654del, NC_000018.9:g.71921650_71921654del, NC_000018.9:g.71921651_71921654del, NC_000018.9:g.71921652_71921654del, NC_000018.9:g.71921653_71921654del, NC_000018.9:g.71921654del, NC_000018.9:g.71921654dup, NC_000018.9:g.71921653_71921654dup, NG_023211.1:g.42580_42585del, NG_023211.1:g.42581_42585del, NG_023211.1:g.42582_42585del, NG_023211.1:g.42583_42585del, NG_023211.1:g.42584_42585del, NG_023211.1:g.42585del, NG_023211.1:g.42585dup, NG_023211.1:g.42584_42585dup

Select item 14913591896.

rs1491359189 has merged into rs531814328 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:74289787 (GRCh38)
18:71957022 (GRCh37)
Canonical SPDI:: NC_000018.10:74289776:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:74289776:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:74289776:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:74289776:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:74289776:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:74289776:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:74289776:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:74289776:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:74289776:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:74289776:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:74289776:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:74289776:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:74289776:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CYB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.25419/1273 (1000Genomes)
HGVS:: NC_000018.10:g.74289787_74289797del, NC_000018.10:g.74289789_74289797del, NC_000018.10:g.74289790_74289797del, NC_000018.10:g.74289791_74289797del, NC_000018.10:g.74289793_74289797del, NC_000018.10:g.74289794_74289797del, NC_000018.10:g.74289795_74289797del, NC_000018.10:g.74289796_74289797del, NC_000018.10:g.74289797del, NC_000018.10:g.74289797dup, NC_000018.10:g.74289796_74289797dup, NC_000018.10:g.74289795_74289797dup, NC_000018.10:g.74289790_74289797dup, NC_000018.9:g.71957022_71957032del, NC_000018.9:g.71957024_71957032del, NC_000018.9:g.71957025_71957032del, NC_000018.9:g.71957026_71957032del, NC_000018.9:g.71957028_71957032del, NC_000018.9:g.71957029_71957032del, NC_000018.9:g.71957030_71957032del, NC_000018.9:g.71957031_71957032del, NC_000018.9:g.71957032del, NC_000018.9:g.71957032dup, NC_000018.9:g.71957031_71957032dup, NC_000018.9:g.71957030_71957032dup, NC_000018.9:g.71957025_71957032dup, NG_023211.1:g.7200_7210del, NG_023211.1:g.7202_7210del, NG_023211.1:g.7203_7210del, NG_023211.1:g.7204_7210del, NG_023211.1:g.7206_7210del, NG_023211.1:g.7207_7210del, NG_023211.1:g.7208_7210del, NG_023211.1:g.7209_7210del, NG_023211.1:g.7210del, NG_023211.1:g.7210dup, NG_023211.1:g.7209_7210dup, NG_023211.1:g.7208_7210dup, NG_023211.1:g.7203_7210dup

Select item 14912595857.

rs1491259585 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 18:74281744 (GRCh38)
18:71948980 (GRCh37)
Canonical SPDI:: NC_000018.10:74281744:G:GGG
Gene:: CYB5A (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000018.10:g.74281745_74281746insGG, NC_000018.9:g.71948980_71948981insGG, NG_023211.1:g.15242_15243insCC

Select item 14911698068.

rs1491169806 has merged into rs1308439463 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:74284244 (GRCh38)
18:71951479 (GRCh37)
Canonical SPDI:: NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:74284233:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CYB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.00564/3 (NorthernSweden)
HGVS:: NC_000018.10:g.74284244_74284253del, NC_000018.10:g.74284247_74284253del, NC_000018.10:g.74284249_74284253del, NC_000018.10:g.74284250_74284253del, NC_000018.10:g.74284251_74284253del, NC_000018.10:g.74284252_74284253del, NC_000018.10:g.74284253del, NC_000018.10:g.74284253dup, NC_000018.10:g.74284252_74284253dup, NC_000018.10:g.74284251_74284253dup, NC_000018.10:g.74284250_74284253dup, NC_000018.9:g.71951479_71951488del, NC_000018.9:g.71951482_71951488del, NC_000018.9:g.71951484_71951488del, NC_000018.9:g.71951485_71951488del, NC_000018.9:g.71951486_71951488del, NC_000018.9:g.71951487_71951488del, NC_000018.9:g.71951488del, NC_000018.9:g.71951488dup, NC_000018.9:g.71951487_71951488dup, NC_000018.9:g.71951486_71951488dup, NC_000018.9:g.71951485_71951488dup, NG_023211.1:g.12744_12753del, NG_023211.1:g.12747_12753del, NG_023211.1:g.12749_12753del, NG_023211.1:g.12750_12753del, NG_023211.1:g.12751_12753del, NG_023211.1:g.12752_12753del, NG_023211.1:g.12753del, NG_023211.1:g.12753dup, NG_023211.1:g.12752_12753dup, NG_023211.1:g.12751_12753dup, NG_023211.1:g.12750_12753dup

Select item 14910974239.

rs1491097423 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:74254401 (GRCh38)
18:71921636 (GRCh37)
Canonical SPDI:: NC_000018.10:74254400:CA:
Gene:: CYB5A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000018.10:g.74254401_74254402del, NC_000018.9:g.71921636_71921637del, NG_023211.1:g.42585_42586del

Select item 149096340210.

rs1490963402 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:74282416 (GRCh38)
18:71949651 (GRCh37)
Canonical SPDI:: NC_000018.10:74282415:A:G
Gene:: CYB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.74282416A>G, NC_000018.9:g.71949651A>G, NG_023211.1:g.14571T>C

Select item 149089132711.

rs1490891327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:74279498 (GRCh38)
18:71946733 (GRCh37)
Canonical SPDI:: NC_000018.10:74279497:C:T
Gene:: CYB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.74279498C>T, NC_000018.9:g.71946733C>T, NG_023211.1:g.17489G>A

Select item 149083893212.

rs1490838932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:74290081 (GRCh38)
18:71957316 (GRCh37)
Canonical SPDI:: NC_000018.10:74290080:G:A,NC_000018.10:74290080:G:T
Gene:: CYB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.74290081G>A, NC_000018.10:g.74290081G>T, NC_000018.9:g.71957316G>A, NC_000018.9:g.71957316G>T, NG_023211.1:g.6906C>T, NG_023211.1:g.6906C>A

Select item 149077225713.

rs1490772257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:74291136 (GRCh38)
18:71958371 (GRCh37)
Canonical SPDI:: NC_000018.10:74291135:G:A
Gene:: CYB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.74291136G>A, NC_000018.9:g.71958371G>A, NG_023211.1:g.5851C>T

Select item 149070262614.

rs1490702626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:74262979 (GRCh38)
18:71930214 (GRCh37)
Canonical SPDI:: NC_000018.10:74262978:G:A
Gene:: CYB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000018.10:g.74262979G>A, NC_000018.9:g.71930214G>A, NG_023211.1:g.34008C>T

Select item 149069220915.

rs1490692209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:74260842 (GRCh38)
18:71928077 (GRCh37)
Canonical SPDI:: NC_000018.10:74260841:C:T
Gene:: CYB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.74260842C>T, NC_000018.9:g.71928077C>T, NG_023211.1:g.36145G>A

Select item 149067365916.

rs1490673659 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 18:74293766 (GRCh38)
18:71961001 (GRCh37)
Canonical SPDI:: NC_000018.10:74293765:TT:T
Gene:: CYB5A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.74293767del, NC_000018.9:g.71961002del, NG_023211.1:g.3221del

Select item 149064717117.

rs1490647171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:74276047 (GRCh38)
18:71943282 (GRCh37)
Canonical SPDI:: NC_000018.10:74276046:C:T
Gene:: CYB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00006/16 (TOPMED)
T=0.000193/27 (GnomAD)
HGVS:: NC_000018.10:g.74276047C>T, NC_000018.9:g.71943282C>T, NG_023211.1:g.20940G>A

Select item 149054061018.

rs1490540610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:74262181 (GRCh38)
18:71929416 (GRCh37)
Canonical SPDI:: NC_000018.10:74262180:C:T
Gene:: CYB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000106/2 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000156/1 (1000Genomes)
T=0.000228/32 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000018.10:g.74262181C>T, NC_000018.9:g.71929416C>T, NG_023211.1:g.34806G>A

Select item 149052830319.

rs1490528303 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:74259656 (GRCh38)
18:71926891 (GRCh37)
Canonical SPDI:: NC_000018.10:74259655:T:C
Gene:: CYB5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.74259656T>C, NC_000018.9:g.71926891T>C, NG_023211.1:g.37331A>G

Select item 149045870720.

rs1490458707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:74259226 (GRCh38)
18:71926461 (GRCh37)
Canonical SPDI:: NC_000018.10:74259225:G:A
Gene:: CYB5A (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_000018.10:g.74259226G>A, NC_000018.9:g.71926461G>A, NG_023211.1:g.37761C>T

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dbSNP

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