SNP Links for Gene (Select 142689) - SNP

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Select item 14908541501.

rs1490854150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:64225498 (GRCh38)
X:63445378 (GRCh37)
Canonical SPDI:: NC_000023.11:64225497:C:G
Gene:: ASB12 (Varview), LOC112268307 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.64225498C>G, NC_000023.10:g.63445378C>G, NG_012823.2:g.10134G>C, NM_130388.4:c.153G>C, NM_130388.3:c.153G>C, NP_569059.3:p.Leu51Phe

Select item 14906594522.

rs1490659452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:64226018 (GRCh38)
X:63445898 (GRCh37)
Canonical SPDI:: NC_000023.11:64226017:C:T
Gene:: ASB12 (Varview), LOC112268307 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.64226018C>T, NC_000023.10:g.63445898C>T, NG_012823.2:g.9614G>A

Select item 14903653343.

rs1490365334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:64225005 (GRCh38)
X:63444885 (GRCh37)
Canonical SPDI:: NC_000023.11:64225004:G:A
Gene:: ASB12 (Varview), LOC112268307 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.64225005G>A, NC_000023.10:g.63444885G>A, NG_012823.2:g.10627C>T, NM_130388.4:c.646C>T, NM_130388.3:c.646C>T

Select item 14903159634.

rs1490315963 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:64228639 (GRCh38)
X:63448519 (GRCh37)
Canonical SPDI:: NC_000023.11:64228638:A:G
Gene:: ASB12 (Varview), LOC112268307 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00033/5 (ALFA)
G=0.000048/5 (GnomAD)
HGVS:: NC_000023.11:g.64228639A>G, NC_000023.10:g.63448519A>G, NG_012823.2:g.6993T>C

Select item 14903051535.

rs1490305153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:64231091 (GRCh38)
X:63450971 (GRCh37)
Canonical SPDI:: NC_000023.11:64231090:C:T
Gene:: ASB12 (Varview), LOC112268307 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.64231091C>T, NC_000023.10:g.63450971C>T, NG_012823.2:g.4541G>A

Select item 14898241716.

rs1489824171 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:64227267 (GRCh38)
X:63447147 (GRCh37)
Canonical SPDI:: NC_000023.11:64227266:T:C
Gene:: ASB12 (Varview), LOC112268307 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.64227267T>C, NC_000023.10:g.63447147T>C, NG_012823.2:g.8365A>G

Select item 14898143087.

rs1489814308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: X:64229921 (GRCh38)
X:63449801 (GRCh37)
Canonical SPDI:: NC_000023.11:64229920:C:A,NC_000023.11:64229920:C:G
Gene:: ASB12 (Varview), LOC112268307 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.64229921C>A, NC_000023.11:g.64229921C>G, NC_000023.10:g.63449801C>A, NC_000023.10:g.63449801C>G, NG_012823.2:g.5711G>T, NG_012823.2:g.5711G>C

Select item 14896304918.

rs1489630491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:64224404 (GRCh38)
X:63444284 (GRCh37)
Canonical SPDI:: NC_000023.11:64224403:G:A,NC_000023.11:64224403:G:T
Gene:: ASB12 (Varview), LOC112268307 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
T=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.64224404G>A, NC_000023.11:g.64224404G>T, NC_000023.10:g.63444284G>A, NC_000023.10:g.63444284G>T, NG_012823.2:g.11228C>T, NG_012823.2:g.11228C>A, NM_130388.4:c.888C>T, NM_130388.4:c.888C>A, NM_130388.3:c.888C>T, NM_130388.3:c.888C>A

Select item 14894077949.

rs1489407794 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: X:64231356 (GRCh38)
X:63451236 (GRCh37)
Canonical SPDI:: NC_000023.11:64231355:G:
Gene:: ASB12 (Varview), LOC112268307 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.64231356del, NC_000023.10:g.63451236del, NG_012823.2:g.4276del

Select item 148928032910.

rs1489280329 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:64231186 (GRCh38)
X:63451066 (GRCh37)
Canonical SPDI:: NC_000023.11:64231185:T:C
Gene:: ASB12 (Varview), LOC112268307 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.64231186T>C, NC_000023.10:g.63451066T>C, NG_012823.2:g.4446A>G

Select item 148903911511.

rs1489039115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:64228417 (GRCh38)
X:63448297 (GRCh37)
Canonical SPDI:: NC_000023.11:64228416:G:T
Gene:: ASB12 (Varview), LOC112268307 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.64228417G>T, NC_000023.10:g.63448297G>T, NG_012823.2:g.7215C>A

Select item 148839737612.

rs1488397376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:64231961 (GRCh38)
X:63451841 (GRCh37)
Canonical SPDI:: NC_000023.11:64231960:C:T
Gene:: ASB12 (Varview), LOC112268307 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.64231961C>T, NC_000023.10:g.63451841C>T, NG_012823.2:g.3671G>A

Select item 148762201513.

rs1487622015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: X:64231303 (GRCh38)
X:63451183 (GRCh37)
Canonical SPDI:: NC_000023.11:64231302:C:A,NC_000023.11:64231302:C:G,NC_000023.11:64231302:C:T
Gene:: ASB12 (Varview), LOC112268307 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.64231303C>A, NC_000023.11:g.64231303C>G, NC_000023.11:g.64231303C>T, NC_000023.10:g.63451183C>A, NC_000023.10:g.63451183C>G, NC_000023.10:g.63451183C>T, NG_012823.2:g.4329G>T, NG_012823.2:g.4329G>C, NG_012823.2:g.4329G>A

Select item 148748308514.

rs1487483085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:64230589 (GRCh38)
X:63450469 (GRCh37)
Canonical SPDI:: NC_000023.11:64230588:G:A
Gene:: ASB12 (Varview), LOC112268307 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.64230589G>A, NC_000023.10:g.63450469G>A, NG_012823.2:g.5043C>T, NM_130388.4:c.-151C>T, NM_130388.3:c.-151C>T

Select item 148732261715.

rs1487322617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:64225431 (GRCh38)
X:63445311 (GRCh37)
Canonical SPDI:: NC_000023.11:64225430:C:A
Gene:: ASB12 (Varview), LOC112268307 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.64225431C>A, NC_000023.10:g.63445311C>A, NG_012823.2:g.10201G>T, NM_130388.4:c.220G>T, NM_130388.3:c.220G>T, NP_569059.3:p.Gly74Trp

Select item 148725890616.

rs1487258906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:64225696 (GRCh38)
X:63445576 (GRCh37)
Canonical SPDI:: NC_000023.11:64225695:G:A
Gene:: ASB12 (Varview), LOC112268307 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.64225696G>A, NC_000023.10:g.63445576G>A, NG_012823.2:g.9936C>T

Select item 148691238217.

rs1486912382 has merged into rs1262418481 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: X:64229527 (GRCh38)
X:63449407 (GRCh37)
Canonical SPDI:: NC_000023.11:64229526:TTTTTTTTT:TTTTTTTT,NC_000023.11:64229526:TTTTTTTTT:TTTTTTTTTT
Gene:: ASB12 (Varview), LOC112268307 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0.00022/4 (ALFA)
-=0.00027/3 (TOMMO)
HGVS:: NC_000023.11:g.64229535del, NC_000023.11:g.64229535dup, NC_000023.10:g.63449415del, NC_000023.10:g.63449415dup, NG_012823.2:g.6105del, NG_012823.2:g.6105dup

Select item 148597515818.

rs1485975158 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:64228714 (GRCh38)
X:63448594 (GRCh37)
Canonical SPDI:: NC_000023.11:64228713:T:C
Gene:: ASB12 (Varview), LOC112268307 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.64228714T>C, NC_000023.10:g.63448594T>C, NG_012823.2:g.6918A>G

Select item 148584107219.

rs1485841072 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:64229844 (GRCh38)
X:63449724 (GRCh37)
Canonical SPDI:: NC_000023.11:64229843:A:G
Gene:: ASB12 (Varview), LOC112268307 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.64229844A>G, NC_000023.10:g.63449724A>G, NG_012823.2:g.5788T>C

Select item 148541859120.

rs1485418591 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:64227492 (GRCh38)
X:63447372 (GRCh37)
Canonical SPDI:: NC_000023.11:64227491:A:G
Gene:: ASB12 (Varview), LOC112268307 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.64227492A>G, NC_000023.10:g.63447372A>G, NG_012823.2:g.8140T>C

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