SNP Links for Gene (Select 3182) - SNP

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Select item 14915344311.

rs1491534431 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:178203504 (GRCh38)
5:177630505 (GRCh37)
Canonical SPDI:: NC_000005.10:178203503:TA:
Gene:: HNRNPAB (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.178203504_178203505del, NC_000005.9:g.177630505_177630506del

Select item 14914872692.

rs1491487269 has merged into rs10586409 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 5:178203816 (GRCh38)
5:177630817 (GRCh37)
Canonical SPDI:: NC_000005.10:178203808:AAAAAAAAAAAAA:AAAAAAA,NC_000005.10:178203808:AAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:178203808:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:178203808:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:178203808:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:178203808:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:178203808:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: HNRNPAB (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0.4247/2127 (1000Genomes)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000005.10:g.178203816_178203821del, NC_000005.10:g.178203818_178203821del, NC_000005.10:g.178203819_178203821del, NC_000005.10:g.178203820_178203821del, NC_000005.10:g.178203821del, NC_000005.10:g.178203821dup, NC_000005.10:g.178203820_178203821dup, NC_000005.9:g.177630817_177630822del, NC_000005.9:g.177630819_177630822del, NC_000005.9:g.177630820_177630822del, NC_000005.9:g.177630821_177630822del, NC_000005.9:g.177630822del, NC_000005.9:g.177630822dup, NC_000005.9:g.177630821_177630822dup

Select item 14914388153.

rs1491438815 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:178203809 (GRCh38)
5:177630811 (GRCh37)
Canonical SPDI:: NC_000005.10:178203809::T
Gene:: HNRNPAB (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: T=0.00116/33 (GnomAD)
HGVS:: NC_000005.10:g.178203809_178203810insT, NC_000005.9:g.177630810_177630811insT

Select item 14914378674.

rs1491437867 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:178203808 (GRCh38)
5:177630809 (GRCh37)
Canonical SPDI:: NC_000005.10:178203807:CA:
Gene:: HNRNPAB (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000005.10:g.178203808_178203809del, NC_000005.9:g.177630809_177630810del

Select item 14914129615.

rs1491412961 has merged into rs34699767 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 5:178206635 (GRCh38)
5:177633636 (GRCh37)
Canonical SPDI:: NC_000005.10:178206631:ACACA:ACA,NC_000005.10:178206631:ACACA:ACACACA
Gene:: HNRNPAB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0.24919/4612 (ALFA)
-=0.220033/30582 (GnomAD)
-=0.227972/60342 (TOPMED)
-=0.250468/1254 (1000Genomes)
-=0.278333/167 (NorthernSweden)
-=0.291667/63 (Vietnamese)
-=0.303268/1355 (Estonian)
-=0.32369/593 (Korea1K)
-=0.338677/338 (GoNL)
-=0.348975/1294 (TWINSUK)
-=0.354979/5949 (TOMMO)
-=0.368189/1419 (ALSPAC)
HGVS:: NC_000005.10:g.178206633CA[1], NC_000005.10:g.178206633CA[3], NC_000005.9:g.177633634CA[1], NC_000005.9:g.177633634CA[3], NG_033253.2:g.31188GT[1], NG_033253.2:g.31188GT[3]

Select item 14913599366.

rs1491359936 has merged into rs10586409 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 5:178203816 (GRCh38)
5:177630817 (GRCh37)
Canonical SPDI:: NC_000005.10:178203808:AAAAAAAAAAAAA:AAAAAAA,NC_000005.10:178203808:AAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:178203808:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:178203808:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:178203808:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:178203808:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:178203808:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: HNRNPAB (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0.4247/2127 (1000Genomes)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000005.10:g.178203816_178203821del, NC_000005.10:g.178203818_178203821del, NC_000005.10:g.178203819_178203821del, NC_000005.10:g.178203820_178203821del, NC_000005.10:g.178203821del, NC_000005.10:g.178203821dup, NC_000005.10:g.178203820_178203821dup, NC_000005.9:g.177630817_177630822del, NC_000005.9:g.177630819_177630822del, NC_000005.9:g.177630820_177630822del, NC_000005.9:g.177630821_177630822del, NC_000005.9:g.177630822del, NC_000005.9:g.177630822dup, NC_000005.9:g.177630821_177630822dup

Select item 14911262067.

rs1491126206 has merged into rs746718363 [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,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:178203515 (GRCh38)
5:177630516 (GRCh37)
Canonical SPDI:: NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178203504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HNRNPAB (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000005.10:g.178203515_178203527del, NC_000005.10:g.178203516_178203527del, NC_000005.10:g.178203517_178203527del, NC_000005.10:g.178203518_178203527del, NC_000005.10:g.178203519_178203527del, NC_000005.10:g.178203520_178203527del, NC_000005.10:g.178203521_178203527del, NC_000005.10:g.178203522_178203527del, NC_000005.10:g.178203523_178203527del, NC_000005.10:g.178203524_178203527del, NC_000005.10:g.178203525_178203527del, NC_000005.10:g.178203526_178203527del, NC_000005.10:g.178203527del, NC_000005.10:g.178203527dup, NC_000005.10:g.178203526_178203527dup, NC_000005.10:g.178203525_178203527dup, NC_000005.10:g.178203524_178203527dup, NC_000005.10:g.178203523_178203527dup, NC_000005.10:g.178203522_178203527dup, NC_000005.10:g.178203521_178203527dup, NC_000005.10:g.178203520_178203527dup, NC_000005.10:g.178203519_178203527dup, NC_000005.10:g.178203518_178203527dup, NC_000005.10:g.178203517_178203527dup, NC_000005.10:g.178203516_178203527dup, NC_000005.10:g.178203515_178203527dup, NC_000005.10:g.178203514_178203527dup, NC_000005.10:g.178203512_178203527dup, NC_000005.10:g.178203510_178203527dup, NC_000005.10:g.178203508_178203527dup, NC_000005.10:g.178203507_178203527dup, NC_000005.10:g.178203506_178203527dup, NC_000005.10:g.178203527_178203528insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.178203527_178203528insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.177630516_177630528del, NC_000005.9:g.177630517_177630528del, NC_000005.9:g.177630518_177630528del, NC_000005.9:g.177630519_177630528del, NC_000005.9:g.177630520_177630528del, NC_000005.9:g.177630521_177630528del, NC_000005.9:g.177630522_177630528del, NC_000005.9:g.177630523_177630528del, NC_000005.9:g.177630524_177630528del, NC_000005.9:g.177630525_177630528del, NC_000005.9:g.177630526_177630528del, NC_000005.9:g.177630527_177630528del, NC_000005.9:g.177630528del, NC_000005.9:g.177630528dup, NC_000005.9:g.177630527_177630528dup, NC_000005.9:g.177630526_177630528dup, NC_000005.9:g.177630525_177630528dup, NC_000005.9:g.177630524_177630528dup, NC_000005.9:g.177630523_177630528dup, NC_000005.9:g.177630522_177630528dup, NC_000005.9:g.177630521_177630528dup, NC_000005.9:g.177630520_177630528dup, NC_000005.9:g.177630519_177630528dup, NC_000005.9:g.177630518_177630528dup, NC_000005.9:g.177630517_177630528dup, NC_000005.9:g.177630516_177630528dup, NC_000005.9:g.177630515_177630528dup, NC_000005.9:g.177630513_177630528dup, NC_000005.9:g.177630511_177630528dup, NC_000005.9:g.177630509_177630528dup, NC_000005.9:g.177630508_177630528dup, NC_000005.9:g.177630507_177630528dup, NC_000005.9:g.177630528_177630529insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.177630528_177630529insAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14911020828.

rs1491102082 [Homo sapiens]

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

Select item 14910896809.

rs1491089680 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 5:178211231 (GRCh38)
5:177638232 (GRCh37)
Canonical SPDI:: NC_000005.10:178211229:GTG:G
Gene:: HNRNPAB (Varview), PHYKPL (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.178211231_178211232del, NC_000005.9:g.177638232_177638233del, NG_033253.2:g.26592_26593del

Select item 149073804910.

rs1490738049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:178207332 (GRCh38)
5:177634333 (GRCh37)
Canonical SPDI:: NC_000005.10:178207331:G:C
Gene:: HNRNPAB (Varview), PHYKPL (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.178207332G>C, NC_000005.9:g.177634333G>C, NG_033253.2:g.30491C>G, XR_002956187.2:n.2665C>G, XR_002956187.1:n.2647C>G, XR_007058654.1:n.4678C>G, XR_007058648.1:n.2796C>G, XR_007058649.1:n.2792C>G, XR_007058650.1:n.2766C>G, XR_007058651.1:n.2635C>G

Select item 149049675211.

rs1490496752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:178211459 (GRCh38)
5:177638460 (GRCh37)
Canonical SPDI:: NC_000005.10:178211458:G:A
Gene:: HNRNPAB (Varview), PHYKPL (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000034/9 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000005.10:g.178211459G>A, NC_000005.9:g.177638460G>A, NG_033253.2:g.26364C>T

Select item 149000306412.

rs1490003064 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:178206201 (GRCh38)
5:177633202 (GRCh37)
Canonical SPDI:: NC_000005.10:178206200:T:C
Gene:: HNRNPAB (Varview)
Functional Consequence:: 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_000005.10:g.178206201T>C, NC_000005.9:g.177633202T>C

Select item 148966645113.

rs1489666451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:178209222 (GRCh38)
5:177636223 (GRCh37)
Canonical SPDI:: NC_000005.10:178209221:G:A,NC_000005.10:178209221:G:T
Gene:: HNRNPAB (Varview), PHYKPL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0./0 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000005.10:g.178209222G>A, NC_000005.10:g.178209222G>T, NC_000005.9:g.177636223G>A, NC_000005.9:g.177636223G>T, NG_033253.2:g.28601C>T, NG_033253.2:g.28601C>A

Select item 148943440514.

rs1489434405 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 5:178203471 (GRCh38)
5:177630472 (GRCh37)
Canonical SPDI:: NC_000005.10:178203470:C:A,NC_000005.10:178203470:C:G,NC_000005.10:178203470:C:T
Gene:: HNRNPAB (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00012/2 (ALFA)
T=0.00022/1 (Estonian)
T=0.00062/4 (1000Genomes)
HGVS:: NC_000005.10:g.178203471C>A, NC_000005.10:g.178203471C>G, NC_000005.10:g.178203471C>T, NC_000005.9:g.177630472C>A, NC_000005.9:g.177630472C>G, NC_000005.9:g.177630472C>T

Select item 148876476315.

rs1488764763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:178209087 (GRCh38)
5:177636088 (GRCh37)
Canonical SPDI:: NC_000005.10:178209086:G:A,NC_000005.10:178209086:G:C
Gene:: HNRNPAB (Varview), PHYKPL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00034/1 (KOREAN)
A=0.00109/2 (Korea1K)
HGVS:: NC_000005.10:g.178209087G>A, NC_000005.10:g.178209087G>C, NC_000005.9:g.177636088G>A, NC_000005.9:g.177636088G>C, NG_033253.2:g.28736C>T, NG_033253.2:g.28736C>G

Select item 148866913116.

rs1488669131 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATCCTTT [Show Flanks]
Chromosome:: 5:178211300 (GRCh38)
5:177638302 (GRCh37)
Canonical SPDI:: NC_000005.10:178211300:TATCCTTT:TATCCTTTTATCCTTT
Gene:: HNRNPAB (Varview), PHYKPL (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TATCCTTTTATCCTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.178211301_178211308dup, NC_000005.9:g.177638302_177638309dup, NG_033253.2:g.26515_26522dup

Select item 148808278617.

rs1488082786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:178207687 (GRCh38)
5:177634688 (GRCh37)
Canonical SPDI:: NC_000005.10:178207686:A:G
Gene:: HNRNPAB (Varview), PHYKPL (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.178207687A>G, NC_000005.9:g.177634688A>G, NG_033253.2:g.30136T>C, XR_002956187.2:n.2310T>C, XR_002956187.1:n.2292T>C, XR_007058654.1:n.4323T>C, XR_007058648.1:n.2441T>C, XR_007058649.1:n.2437T>C, XR_007058650.1:n.2411T>C, XR_007058651.1:n.2280T>C

Select item 148782035718.

rs1487820357 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:178203805 (GRCh38)
5:177630806 (GRCh37)
Canonical SPDI:: NC_000005.10:178203804:C:A
Gene:: HNRNPAB (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.00019/3 (ALFA)
HGVS:: NC_000005.10:g.178203805C>A, NC_000005.9:g.177630806C>A

Select item 148763969619.

rs1487639696 has merged into rs34424574 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:178207701 (GRCh38)
5:177634702 (GRCh37)
Canonical SPDI:: NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: HNRNPAB (Varview), PHYKPL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.178207701_178207715del, NC_000005.10:g.178207702_178207715del, NC_000005.10:g.178207703_178207715del, NC_000005.10:g.178207704_178207715del, NC_000005.10:g.178207705_178207715del, NC_000005.10:g.178207706_178207715del, NC_000005.10:g.178207707_178207715del, NC_000005.10:g.178207708_178207715del, NC_000005.10:g.178207709_178207715del, NC_000005.10:g.178207710_178207715del, NC_000005.10:g.178207711_178207715del, NC_000005.10:g.178207712_178207715del, NC_000005.10:g.178207713_178207715del, NC_000005.10:g.178207714_178207715del, NC_000005.10:g.178207715del, NC_000005.10:g.178207715dup, NC_000005.10:g.178207714_178207715dup, NC_000005.10:g.178207713_178207715dup, NC_000005.10:g.178207712_178207715dup, NC_000005.10:g.178207710_178207715dup, NC_000005.10:g.178207709_178207715dup, NC_000005.10:g.178207708_178207715dup, NC_000005.10:g.178207707_178207715dup, NC_000005.10:g.178207706_178207715dup, NC_000005.10:g.178207705_178207715dup, NC_000005.10:g.178207703_178207715dup, NC_000005.10:g.178207702_178207715dup, NC_000005.10:g.178207701_178207715dup, NC_000005.10:g.178207700_178207715dup, NC_000005.10:g.178207696_178207715dup, NC_000005.10:g.178207715_178207716insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.178207715_178207716insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.178207715_178207716insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.177634702_177634716del, NC_000005.9:g.177634703_177634716del, NC_000005.9:g.177634704_177634716del, NC_000005.9:g.177634705_177634716del, NC_000005.9:g.177634706_177634716del, NC_000005.9:g.177634707_177634716del, NC_000005.9:g.177634708_177634716del, NC_000005.9:g.177634709_177634716del, NC_000005.9:g.177634710_177634716del, NC_000005.9:g.177634711_177634716del, NC_000005.9:g.177634712_177634716del, NC_000005.9:g.177634713_177634716del, NC_000005.9:g.177634714_177634716del, NC_000005.9:g.177634715_177634716del, NC_000005.9:g.177634716del, NC_000005.9:g.177634716dup, NC_000005.9:g.177634715_177634716dup, NC_000005.9:g.177634714_177634716dup, NC_000005.9:g.177634713_177634716dup, NC_000005.9:g.177634711_177634716dup, NC_000005.9:g.177634710_177634716dup, NC_000005.9:g.177634709_177634716dup, NC_000005.9:g.177634708_177634716dup, NC_000005.9:g.177634707_177634716dup, NC_000005.9:g.177634706_177634716dup, NC_000005.9:g.177634704_177634716dup, NC_000005.9:g.177634703_177634716dup, NC_000005.9:g.177634702_177634716dup, NC_000005.9:g.177634701_177634716dup, NC_000005.9:g.177634697_177634716dup, NC_000005.9:g.177634716_177634717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.177634716_177634717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.177634716_177634717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033253.2:g.30117_30131del, NG_033253.2:g.30118_30131del, NG_033253.2:g.30119_30131del, NG_033253.2:g.30120_30131del, NG_033253.2:g.30121_30131del, NG_033253.2:g.30122_30131del, NG_033253.2:g.30123_30131del, NG_033253.2:g.30124_30131del, NG_033253.2:g.30125_30131del, NG_033253.2:g.30126_30131del, NG_033253.2:g.30127_30131del, NG_033253.2:g.30128_30131del, NG_033253.2:g.30129_30131del, NG_033253.2:g.30130_30131del, NG_033253.2:g.30131del, NG_033253.2:g.30131dup, NG_033253.2:g.30130_30131dup, NG_033253.2:g.30129_30131dup, NG_033253.2:g.30128_30131dup, NG_033253.2:g.30126_30131dup, NG_033253.2:g.30125_30131dup, NG_033253.2:g.30124_30131dup, NG_033253.2:g.30123_30131dup, NG_033253.2:g.30122_30131dup, NG_033253.2:g.30121_30131dup, NG_033253.2:g.30119_30131dup, NG_033253.2:g.30118_30131dup, NG_033253.2:g.30117_30131dup, NG_033253.2:g.30116_30131dup, NG_033253.2:g.30112_30131dup, NG_033253.2:g.30131_30132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_033253.2:g.30131_30132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_033253.2:g.30131_30132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_002956187.2:n.2291_2305del, XR_002956187.2:n.2292_2305del, XR_002956187.2:n.2293_2305del, XR_002956187.2:n.2294_2305del, XR_002956187.2:n.2295_2305del, XR_002956187.2:n.2296_2305del, XR_002956187.2:n.2297_2305del, XR_002956187.2:n.2298_2305del, XR_002956187.2:n.2299_2305del, XR_002956187.2:n.2300_2305del, XR_002956187.2:n.2301_2305del, XR_002956187.2:n.2302_2305del, XR_002956187.2:n.2303_2305del, XR_002956187.2:n.2304_2305del, XR_002956187.2:n.2305del, XR_002956187.2:n.2305dup, XR_002956187.2:n.2304_2305dup, XR_002956187.2:n.2303_2305dup, XR_002956187.2:n.2302_2305dup, XR_002956187.2:n.2300_2305dup, XR_002956187.2:n.2299_2305dup, XR_002956187.2:n.2298_2305dup, XR_002956187.2:n.2297_2305dup, XR_002956187.2:n.2296_2305dup, XR_002956187.2:n.2295_2305dup, XR_002956187.2:n.2293_2305dup, XR_002956187.2:n.2292_2305dup, XR_002956187.2:n.2291_2305dup, XR_002956187.2:n.2290_2305dup, XR_002956187.2:n.2286_2305dup, XR_002956187.2:n.2305_2306insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_002956187.2:n.2305_2306insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_002956187.2:n.2305_2306insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_002956187.1:n.2273_2287del, XR_002956187.1:n.2274_2287del, XR_002956187.1:n.2275_2287del, XR_002956187.1:n.2276_2287del, XR_002956187.1:n.2277_2287del, XR_002956187.1:n.2278_2287del, XR_002956187.1:n.2279_2287del, XR_002956187.1:n.2280_2287del, XR_002956187.1:n.2281_2287del, XR_002956187.1:n.2282_2287del, XR_002956187.1:n.2283_2287del, XR_002956187.1:n.2284_2287del, XR_002956187.1:n.2285_2287del, XR_002956187.1:n.2286_2287del, XR_002956187.1:n.2287del, XR_002956187.1:n.2287dup, XR_002956187.1:n.2286_2287dup, XR_002956187.1:n.2285_2287dup, XR_002956187.1:n.2284_2287dup, XR_002956187.1:n.2282_2287dup, XR_002956187.1:n.2281_2287dup, XR_002956187.1:n.2280_2287dup, XR_002956187.1:n.2279_2287dup, XR_002956187.1:n.2278_2287dup, XR_002956187.1:n.2277_2287dup, XR_002956187.1:n.2275_2287dup, XR_002956187.1:n.2274_2287dup, XR_002956187.1:n.2273_2287dup, XR_002956187.1:n.2272_2287dup, XR_002956187.1:n.2268_2287dup, XR_002956187.1:n.2287_2288insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_002956187.1:n.2287_2288insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_002956187.1:n.2287_2288insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_007058654.1:n.4304_4318del, XR_007058654.1:n.4305_4318del, XR_007058654.1:n.4306_4318del, XR_007058654.1:n.4307_4318del, XR_007058654.1:n.4308_4318del, XR_007058654.1:n.4309_4318del, XR_007058654.1:n.4310_4318del, XR_007058654.1:n.4311_4318del, XR_007058654.1:n.4312_4318del, XR_007058654.1:n.4313_4318del, XR_007058654.1:n.4314_4318del, XR_007058654.1:n.4315_4318del, XR_007058654.1:n.4316_4318del, XR_007058654.1:n.4317_4318del, XR_007058654.1:n.4318del, XR_007058654.1:n.4318dup, XR_007058654.1:n.4317_4318dup, XR_007058654.1:n.4316_4318dup, XR_007058654.1:n.4315_4318dup, XR_007058654.1:n.4313_4318dup, XR_007058654.1:n.4312_4318dup, XR_007058654.1:n.4311_4318dup, XR_007058654.1:n.4310_4318dup, XR_007058654.1:n.4309_4318dup, XR_007058654.1:n.4308_4318dup, XR_007058654.1:n.4306_4318dup, XR_007058654.1:n.4305_4318dup, XR_007058654.1:n.4304_4318dup, XR_007058654.1:n.4303_4318dup, XR_007058654.1:n.4299_4318dup, XR_007058654.1:n.4318_4319insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_007058654.1:n.4318_4319insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_007058654.1:n.4318_4319insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_007058648.1:n.2422_2436del, XR_007058648.1:n.2423_2436del, XR_007058648.1:n.2424_2436del, XR_007058648.1:n.2425_2436del, XR_007058648.1:n.2426_2436del, XR_007058648.1:n.2427_2436del, XR_007058648.1:n.2428_2436del, XR_007058648.1:n.2429_2436del, XR_007058648.1:n.2430_2436del, XR_007058648.1:n.2431_2436del, XR_007058648.1:n.2432_2436del, XR_007058648.1:n.2433_2436del, XR_007058648.1:n.2434_2436del, XR_007058648.1:n.2435_2436del, XR_007058648.1:n.2436del, XR_007058648.1:n.2436dup, XR_007058648.1:n.2435_2436dup, XR_007058648.1:n.2434_2436dup, XR_007058648.1:n.2433_2436dup, XR_007058648.1:n.2431_2436dup, XR_007058648.1:n.2430_2436dup, XR_007058648.1:n.2429_2436dup, XR_007058648.1:n.2428_2436dup, XR_007058648.1:n.2427_2436dup, XR_007058648.1:n.2426_2436dup, XR_007058648.1:n.2424_2436dup, XR_007058648.1:n.2423_2436dup, XR_007058648.1:n.2422_2436dup, XR_007058648.1:n.2421_2436dup, XR_007058648.1:n.2417_2436dup, XR_007058648.1:n.2436_2437insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_007058648.1:n.2436_2437insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_007058648.1:n.2436_2437insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_007058649.1:n.2418_2432del, XR_007058649.1:n.2419_2432del, XR_007058649.1:n.2420_2432del, XR_007058649.1:n.2421_2432del, XR_007058649.1:n.2422_2432del, XR_007058649.1:n.2423_2432del, XR_007058649.1:n.2424_2432del, XR_007058649.1:n.2425_2432del, XR_007058649.1:n.2426_2432del, XR_007058649.1:n.2427_2432del, XR_007058649.1:n.2428_2432del, XR_007058649.1:n.2429_2432del, XR_007058649.1:n.2430_2432del, XR_007058649.1:n.2431_2432del, XR_007058649.1:n.2432del, XR_007058649.1:n.2432dup, XR_007058649.1:n.2431_2432dup, XR_007058649.1:n.2430_2432dup, XR_007058649.1:n.2429_2432dup, XR_007058649.1:n.2427_2432dup, XR_007058649.1:n.2426_2432dup, XR_007058649.1:n.2425_2432dup, XR_007058649.1:n.2424_2432dup, XR_007058649.1:n.2423_2432dup, XR_007058649.1:n.2422_2432dup, XR_007058649.1:n.2420_2432dup, XR_007058649.1:n.2419_2432dup, XR_007058649.1:n.2418_2432dup, XR_007058649.1:n.2417_2432dup, XR_007058649.1:n.2413_2432dup, XR_007058649.1:n.2432_2433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_007058649.1:n.2432_2433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_007058649.1:n.2432_2433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_007058650.1:n.2392_2406del, XR_007058650.1:n.2393_2406del, XR_007058650.1:n.2394_2406del, XR_007058650.1:n.2395_2406del, XR_007058650.1:n.2396_2406del, XR_007058650.1:n.2397_2406del, XR_007058650.1:n.2398_2406del, XR_007058650.1:n.2399_2406del, XR_007058650.1:n.2400_2406del, XR_007058650.1:n.2401_2406del, XR_007058650.1:n.2402_2406del, XR_007058650.1:n.2403_2406del, XR_007058650.1:n.2404_2406del, XR_007058650.1:n.2405_2406del, XR_007058650.1:n.2406del, XR_007058650.1:n.2406dup, XR_007058650.1:n.2405_2406dup, XR_007058650.1:n.2404_2406dup, XR_007058650.1:n.2403_2406dup, XR_007058650.1:n.2401_2406dup, XR_007058650.1:n.2400_2406dup, XR_007058650.1:n.2399_2406dup, XR_007058650.1:n.2398_2406dup, XR_007058650.1:n.2397_2406dup, XR_007058650.1:n.2396_2406dup, XR_007058650.1:n.2394_2406dup, XR_007058650.1:n.2393_2406dup, XR_007058650.1:n.2392_2406dup, XR_007058650.1:n.2391_2406dup, XR_007058650.1:n.2387_2406dup, XR_007058650.1:n.2406_2407insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_007058650.1:n.2406_2407insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_007058650.1:n.2406_2407insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_007058651.1:n.2261_2275del, XR_007058651.1:n.2262_2275del, XR_007058651.1:n.2263_2275del, XR_007058651.1:n.2264_2275del, XR_007058651.1:n.2265_2275del, XR_007058651.1:n.2266_2275del, XR_007058651.1:n.2267_2275del, XR_007058651.1:n.2268_2275del, XR_007058651.1:n.2269_2275del, XR_007058651.1:n.2270_2275del, XR_007058651.1:n.2271_2275del, XR_007058651.1:n.2272_2275del, XR_007058651.1:n.2273_2275del, XR_007058651.1:n.2274_2275del, XR_007058651.1:n.2275del, XR_007058651.1:n.2275dup, XR_007058651.1:n.2274_2275dup, XR_007058651.1:n.2273_2275dup, XR_007058651.1:n.2272_2275dup, XR_007058651.1:n.2270_2275dup, XR_007058651.1:n.2269_2275dup, XR_007058651.1:n.2268_2275dup, XR_007058651.1:n.2267_2275dup, XR_007058651.1:n.2266_2275dup, XR_007058651.1:n.2265_2275dup, XR_007058651.1:n.2263_2275dup, XR_007058651.1:n.2262_2275dup, XR_007058651.1:n.2261_2275dup, XR_007058651.1:n.2260_2275dup, XR_007058651.1:n.2256_2275dup, XR_007058651.1:n.2275_2276insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_007058651.1:n.2275_2276insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_007058651.1:n.2275_2276insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 148722401020.

rs1487224010 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:178210701 (GRCh38)
5:177637702 (GRCh37)
Canonical SPDI:: NC_000005.10:178210700:T:C
Gene:: HNRNPAB (Varview), PHYKPL (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.178210701T>C, NC_000005.9:g.177637702T>C, NG_033253.2:g.27122A>G, NM_004499.4:c.*78T>C, NM_004499.3:c.*78T>C, NM_031266.3:c.*78T>C, NM_031266.2:c.*78T>C, XM_047417138.1:c.*78T>C, XM_047417139.1:c.*78T>C

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