SNP Links for Gene (Select 729162) - SNP

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Select item 14911901541.

rs1491190154 has merged into rs1299651970 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: X:3907175 (GRCh38)
X:3825216 (GRCh37)
Canonical SPDI:: NC_000023.11:3907151:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:3907151:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:3907151:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:3907151:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:3907151:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:3907151:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:3907151:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:3907151:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:3907151:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:3907151:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:3907151:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:3907151:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FAM239B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000023.11:g.3907175_3907178del, NC_000023.11:g.3907176_3907178del, NC_000023.11:g.3907177_3907178del, NC_000023.11:g.3907178del, NC_000023.11:g.3907178dup, NC_000023.11:g.3907177_3907178dup, NC_000023.11:g.3907176_3907178dup, NC_000023.11:g.3907175_3907178dup, NC_000023.11:g.3907174_3907178dup, NC_000023.11:g.3907173_3907178dup, NC_000023.11:g.3907172_3907178dup, NC_000023.11:g.3907171_3907178dup, NC_000023.10:g.3825216_3825219del, NC_000023.10:g.3825217_3825219del, NC_000023.10:g.3825218_3825219del, NC_000023.10:g.3825219del, NC_000023.10:g.3825219dup, NC_000023.10:g.3825218_3825219dup, NC_000023.10:g.3825217_3825219dup, NC_000023.10:g.3825216_3825219dup, NC_000023.10:g.3825215_3825219dup, NC_000023.10:g.3825214_3825219dup, NC_000023.10:g.3825213_3825219dup, NC_000023.10:g.3825212_3825219dup

Select item 14911799332.

rs1491179933 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: X:3907151 (GRCh38)
X:3825192 (GRCh37)
Canonical SPDI:: NC_000023.11:3907150:CT:
Gene:: FAM239B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00126/15 (ALFA)
-=0.00437/21 (1000Genomes)
-=0.00446/85 (GnomAD)
HGVS:: NC_000023.11:g.3907151_3907152del, NC_000023.10:g.3825192_3825193del

Select item 14910548503.

rs1491054850 has merged into rs143906756 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA,AAAA [Show Flanks]
Chromosome:: X:3915204 (GRCh38)
X:3833245 (GRCh37)
Canonical SPDI:: NC_000023.11:3915203:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:3915203:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:3915203:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:3915203:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: FAM239B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.00284/1 (TOMMO)
HGVS:: NC_000023.11:g.3915219del, NC_000023.11:g.3915219dup, NC_000023.11:g.3915218_3915219dup, NC_000023.11:g.3915217_3915219dup, NC_000023.10:g.3833260del, NC_000023.10:g.3833260dup, NC_000023.10:g.3833259_3833260dup, NC_000023.10:g.3833258_3833260dup

Select item 14910003194.

rs1491000319 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:3892340 (GRCh38)
X:3810381 (GRCh37)
Canonical SPDI:: NC_000023.11:3892339:A:G
Gene:: FAM239B (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.3892340A>G, NC_000023.10:g.3810381A>G, NR_146578.1:n.2926T>C

Select item 14909629815.

rs1490962981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:3895526 (GRCh38)
X:3813567 (GRCh37)
Canonical SPDI:: NC_000023.11:3895525:G:A
Gene:: FAM239B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
A=0.00007/2 (GnomAD)
HGVS:: NC_000023.11:g.3895526G>A, NC_000023.10:g.3813567G>A

Select item 14909233216.

rs1490923321 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTT [Show Flanks]
Chromosome:: X:3898764 (GRCh38)
X:3816806 (GRCh37)
Canonical SPDI:: NC_000023.11:3898764::TTTT
Gene:: FAM239B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
TTTT=0.00036/2 (GnomAD)
HGVS:: NC_000023.11:g.3898764_3898765insTTTT, NC_000023.10:g.3816805_3816806insTTTT

Select item 14905105367.

rs1490510536 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:3893509 (GRCh38)
X:3811550 (GRCh37)
Canonical SPDI:: NC_000023.11:3893508:T:A
Gene:: FAM239B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00649/10 (KOREAN)
A=0.01583/126 (TOMMO)
HGVS:: NC_000023.11:g.3893509T>A, NC_000023.10:g.3811550T>A

Select item 14904354868.

rs1490435486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:3902281 (GRCh38)
X:3820322 (GRCh37)
Canonical SPDI:: NC_000023.11:3902280:G:A
Gene:: FAM239B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.3902281G>A, NC_000023.10:g.3820322G>A

Select item 14901861439.

rs1490186143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:3885137 (GRCh38)
X:3803178 (GRCh37)
Canonical SPDI:: NC_000023.11:3885136:A:G
Gene:: FAM239B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00025/3 (ALFA)
G=0.00023/10 (GnomAD)
HGVS:: NC_000023.11:g.3885137A>G, NC_000023.10:g.3803178A>G

Select item 149010976210.

rs1490109762 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAT>- [Show Flanks]
Chromosome:: X:3895323 (GRCh38)
X:3813364 (GRCh37)
Canonical SPDI:: NC_000023.11:3895317:TAGATAGAT:TAGAT
Gene:: FAM239B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAGAT=0./0 (ALFA)
HGVS:: NC_000023.11:g.3895319AGAT[1], NC_000023.10:g.3813360AGAT[1]

Select item 148904121811.

rs1489041218 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: X:3914332 (GRCh38)
X:3832373 (GRCh37)
Canonical SPDI:: NC_000023.11:3914330:TGT:T
Gene:: FAM239B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.3914332_3914333del, NC_000023.10:g.3832373_3832374del

Select item 148863022512.

rs1488630225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:3905972 (GRCh38)
X:3824013 (GRCh37)
Canonical SPDI:: NC_000023.11:3905971:G:T
Gene:: FAM239B (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000023.11:g.3905972G>T, NC_000023.10:g.3824013G>T, NR_146578.1:n.810C>A, NR_146579.1:n.810C>A

Select item 148786325513.

rs1487863255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:3906204 (GRCh38)
X:3824245 (GRCh37)
Canonical SPDI:: NC_000023.11:3906203:C:T
Gene:: FAM239B (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00004/1 (GnomAD)
HGVS:: NC_000023.11:g.3906204C>T, NC_000023.10:g.3824245C>T, NR_146578.1:n.578G>A, NR_146579.1:n.578G>A

Select item 148750721514.

rs1487507215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:3904943 (GRCh38)
X:3822984 (GRCh37)
Canonical SPDI:: NC_000023.11:3904942:G:A
Gene:: FAM239B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.3904943G>A, NC_000023.10:g.3822984G>A

Select item 148694645315.

rs1486946453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:3885245 (GRCh38)
X:3803286 (GRCh37)
Canonical SPDI:: NC_000023.11:3885244:C:T
Gene:: FAM239B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00187/9 (1000Genomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.3885245C>T, NC_000023.10:g.3803286C>T

Select item 148683452816.

rs1486834528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:3902093 (GRCh38)
X:3820134 (GRCh37)
Canonical SPDI:: NC_000023.11:3902092:G:C
Gene:: FAM239B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.3902093G>C, NC_000023.10:g.3820134G>C

Select item 148555142817.

rs1485551428 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: X:3907149 (GRCh38)
X:3825190 (GRCh37)
Canonical SPDI:: NC_000023.11:3907148:A:C,NC_000023.11:3907148:A:T
Gene:: FAM239B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00014/2 (ALFA)
C=0.00028/5 (TOMMO)
T=0.02468/61 (KOREAN)
HGVS:: NC_000023.11:g.3907149A>C, NC_000023.11:g.3907149A>T, NC_000023.10:g.3825190A>C, NC_000023.10:g.3825190A>T

Select item 148553847018.

rs1485538470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:3907150 (GRCh38)
X:3825191 (GRCh37)
Canonical SPDI:: NC_000023.11:3907149:C:A,NC_000023.11:3907149:C:T
Gene:: FAM239B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00005/1 (GnomAD)
HGVS:: NC_000023.11:g.3907150C>A, NC_000023.11:g.3907150C>T, NC_000023.10:g.3825191C>A, NC_000023.10:g.3825191C>T

Select item 148379385319.

rs1483793853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:3915075 (GRCh38)
X:3833116 (GRCh37)
Canonical SPDI:: NC_000023.11:3915074:G:T
Gene:: FAM239B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00017/2 (ALFA)
HGVS:: NC_000023.11:g.3915075G>T, NC_000023.10:g.3833116G>T

Select item 148363799720.

rs1483637997 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATG>- [Show Flanks]
Chromosome:: X:3895349 (GRCh38)
X:3813390 (GRCh37)
Canonical SPDI:: NC_000023.11:3895347:GATG:G
Gene:: FAM239B (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.3895349_3895351del, NC_000023.10:g.3813390_3813392del

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