SNP Links for Gene (Select 550643) - SNP

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Select item 14915071871.

rs1491507187 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: X:56732973 (GRCh38)
X:56759407 (GRCh37)
Canonical SPDI:: NC_000023.11:56732973:A:AA
Gene:: NBDY (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.56732974dup, NC_000023.10:g.56759407dup

Select item 14914825202.

rs1491482520 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAAAAA [Show Flanks]
Chromosome:: X:56730514 (GRCh38)
X:56756948 (GRCh37)
Canonical SPDI:: NC_000023.11:56730514:AAAAAAA:AAAAAAACAAAAAAA
Gene:: NBDY (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.56730515_56730521A[7]CAAAAAAA[1], NC_000023.10:g.56756948_56756954A[7]CAAAAAAA[1]

Select item 14914241033.

rs1491424103 has merged into rs1157131797 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:56730526 (GRCh38)
X:56756959 (GRCh37)
Canonical SPDI:: NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:56730513:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NBDY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.56730526_56730546del, NC_000023.11:g.56730527_56730546del, NC_000023.11:g.56730528_56730546del, NC_000023.11:g.56730529_56730546del, NC_000023.11:g.56730530_56730546del, NC_000023.11:g.56730531_56730546del, NC_000023.11:g.56730532_56730546del, NC_000023.11:g.56730533_56730546del, NC_000023.11:g.56730534_56730546del, NC_000023.11:g.56730535_56730546del, NC_000023.11:g.56730536_56730546del, NC_000023.11:g.56730537_56730546del, NC_000023.11:g.56730538_56730546del, NC_000023.11:g.56730539_56730546del, NC_000023.11:g.56730540_56730546del, NC_000023.11:g.56730541_56730546del, NC_000023.11:g.56730542_56730546del, NC_000023.11:g.56730543_56730546del, NC_000023.11:g.56730544_56730546del, NC_000023.11:g.56730545_56730546del, NC_000023.11:g.56730546del, NC_000023.11:g.56730546dup, NC_000023.11:g.56730545_56730546dup, NC_000023.11:g.56730544_56730546dup, NC_000023.11:g.56730543_56730546dup, NC_000023.11:g.56730542_56730546dup, NC_000023.11:g.56730541_56730546dup, NC_000023.11:g.56730540_56730546dup, NC_000023.11:g.56730539_56730546dup, NC_000023.11:g.56730538_56730546dup, NC_000023.11:g.56730537_56730546dup, NC_000023.11:g.56730536_56730546dup, NC_000023.11:g.56730535_56730546dup, NC_000023.11:g.56730532_56730546dup, NC_000023.11:g.56730531_56730546dup, NC_000023.11:g.56730530_56730546dup, NC_000023.11:g.56730526_56730546dup, NC_000023.11:g.56730525_56730546dup, NC_000023.11:g.56730524_56730546dup, NC_000023.11:g.56730523_56730546dup, NC_000023.11:g.56730521_56730546dup, NC_000023.11:g.56730519_56730546dup, NC_000023.11:g.56730517_56730546dup, NC_000023.11:g.56730546_56730547insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.56756959_56756979del, NC_000023.10:g.56756960_56756979del, NC_000023.10:g.56756961_56756979del, NC_000023.10:g.56756962_56756979del, NC_000023.10:g.56756963_56756979del, NC_000023.10:g.56756964_56756979del, NC_000023.10:g.56756965_56756979del, NC_000023.10:g.56756966_56756979del, NC_000023.10:g.56756967_56756979del, NC_000023.10:g.56756968_56756979del, NC_000023.10:g.56756969_56756979del, NC_000023.10:g.56756970_56756979del, NC_000023.10:g.56756971_56756979del, NC_000023.10:g.56756972_56756979del, NC_000023.10:g.56756973_56756979del, NC_000023.10:g.56756974_56756979del, NC_000023.10:g.56756975_56756979del, NC_000023.10:g.56756976_56756979del, NC_000023.10:g.56756977_56756979del, NC_000023.10:g.56756978_56756979del, NC_000023.10:g.56756979del, NC_000023.10:g.56756979dup, NC_000023.10:g.56756978_56756979dup, NC_000023.10:g.56756977_56756979dup, NC_000023.10:g.56756976_56756979dup, NC_000023.10:g.56756975_56756979dup, NC_000023.10:g.56756974_56756979dup, NC_000023.10:g.56756973_56756979dup, NC_000023.10:g.56756972_56756979dup, NC_000023.10:g.56756971_56756979dup, NC_000023.10:g.56756970_56756979dup, NC_000023.10:g.56756969_56756979dup, NC_000023.10:g.56756968_56756979dup, NC_000023.10:g.56756965_56756979dup, NC_000023.10:g.56756964_56756979dup, NC_000023.10:g.56756963_56756979dup, NC_000023.10:g.56756959_56756979dup, NC_000023.10:g.56756958_56756979dup, NC_000023.10:g.56756957_56756979dup, NC_000023.10:g.56756956_56756979dup, NC_000023.10:g.56756954_56756979dup, NC_000023.10:g.56756952_56756979dup, NC_000023.10:g.56756950_56756979dup, NC_000023.10:g.56756979_56756980insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913396404.

rs1491339640 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: X:56819460 (GRCh38)
X:56845893 (GRCh37)
Canonical SPDI:: NC_000023.11:56819459:AAAAAAAA:AAAAAAA,NC_000023.11:56819459:AAAAAAAA:AAAAAAAAA
Gene:: NBDY (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.00002/2 (GnomAD)
-=0.000026/7 (TOPMED)
-=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.56819467del, NC_000023.11:g.56819467dup, NC_000023.10:g.56845900del, NC_000023.10:g.56845900dup

Select item 14913192865.

rs1491319286 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: X:56818996 (GRCh38)
X:56845429 (GRCh37)
Canonical SPDI:: NC_000023.11:56818994:ACA:A
Gene:: NBDY (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.03153/374 (ALFA)
-=0.00086/11 (TOMMO)
-=0.03371/162 (1000Genomes)
-=0.03725/2830 (GnomAD)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000023.11:g.56818996_56818997del, NC_000023.10:g.56845429_56845430del, NM_001348129.2:c.*1843_*1844del, NM_001348129.1:c.*1843_*1844del

Select item 14910507396.

rs1491050739 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: X:56780808 (GRCh38)
X:56807241 (GRCh37)
Canonical SPDI:: NC_000023.11:56780807:TC:
Gene:: NBDY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00006/1 (ALFA)
HGVS:: NC_000023.11:g.56780808_56780809del, NC_000023.10:g.56807241_56807242del

Select item 14910291537.

rs1491029153 has merged into rs143262854 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGA>-,GA,GAGA,GAGAGAGA [Show Flanks]
Chromosome:: X:56739315 (GRCh38)
X:56765748 (GRCh37)
Canonical SPDI:: NC_000023.11:56739299:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000023.11:56739299:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000023.11:56739299:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000023.11:56739299:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA
Gene:: UQCRBP1 (Varview), NBDY (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAGAGAGAGA=0./0 (ALFA)
HGVS:: NC_000023.11:g.56739301GA[7], NC_000023.11:g.56739301GA[8], NC_000023.11:g.56739301GA[9], NC_000023.11:g.56739301GA[11], NC_000023.10:g.56765734GA[7], NC_000023.10:g.56765734GA[8], NC_000023.10:g.56765734GA[9], NC_000023.10:g.56765734GA[11]

Select item 14909228638.

rs1490922863 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:56746058 (GRCh38)
X:56772491 (GRCh37)
Canonical SPDI:: NC_000023.11:56746057:T:C
Gene:: NBDY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.56746058T>C, NC_000023.10:g.56772491T>C

Select item 14908397739.

rs1490839773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:56815632 (GRCh38)
X:56842065 (GRCh37)
Canonical SPDI:: NC_000023.11:56815631:G:A
Gene:: NBDY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56815632G>A, NC_000023.10:g.56842065G>A

Select item 149082142410.

rs1490821424 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:56734744 (GRCh38)
X:56761177 (GRCh37)
Canonical SPDI:: NC_000023.11:56734743:G:T
Gene:: NBDY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.56734744G>T, NC_000023.10:g.56761177G>T

Select item 149072531111.

rs1490725311 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:56817772 (GRCh38)
X:56844205 (GRCh37)
Canonical SPDI:: NC_000023.11:56817771:A:G
Gene:: NBDY (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000108/2 (ALFA)
G=0.000034/9 (TOPMED)
G=0.000048/5 (GnomAD)
HGVS:: NC_000023.11:g.56817772A>G, NC_000023.10:g.56844205A>G, NM_001348129.2:c.*619A>G, NM_001348129.1:c.*619A>G

Select item 149066471112.

rs1490664711 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTCCT>- [Show Flanks]
Chromosome:: X:56791925 (GRCh38)
X:56818358 (GRCh37)
Canonical SPDI:: NC_000023.11:56791911:TCTTCCTCTTCCTCTTCCT:TCTTCCTCTTCCT
Gene:: NBDY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTTCCTCTTCCT=0.001404/26 (ALFA)
-=0.000223/23 (GnomAD)
HGVS:: NC_000023.11:g.56791913CTTCCT[2], NC_000023.10:g.56818346CTTCCT[2]

Select item 149064242713.

rs1490642427 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:56739923 (GRCh38)
X:56766356 (GRCh37)
Canonical SPDI:: NC_000023.11:56739922:A:G
Gene:: NBDY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.56739923A>G, NC_000023.10:g.56766356A>G

Select item 149061118514.

rs1490611185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:56804758 (GRCh38)
X:56831191 (GRCh37)
Canonical SPDI:: NC_000023.11:56804757:G:A
Gene:: NBDY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.56804758G>A, NC_000023.10:g.56831191G>A

Select item 149057129315.

rs1490571293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:56785672 (GRCh38)
X:56812105 (GRCh37)
Canonical SPDI:: NC_000023.11:56785671:G:A
Gene:: NBDY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.56785672G>A, NC_000023.10:g.56812105G>A

Select item 149051012416.

rs1490510124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:56748610 (GRCh38)
X:56775043 (GRCh37)
Canonical SPDI:: NC_000023.11:56748609:G:C
Gene:: NBDY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56748610G>C, NC_000023.10:g.56775043G>C

Select item 149040308617.

rs1490403086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:56733655 (GRCh38)
X:56760088 (GRCh37)
Canonical SPDI:: NC_000023.11:56733654:G:A
Gene:: NBDY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.56733655G>A, NC_000023.10:g.56760088G>A

Select item 149034779018.

rs1490347790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:56816200 (GRCh38)
X:56842633 (GRCh37)
Canonical SPDI:: NC_000023.11:56816199:G:C
Gene:: NBDY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56816200G>C, NC_000023.10:g.56842633G>C

Select item 149026538019.

rs1490265380 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:56796498 (GRCh38)
X:56822931 (GRCh37)
Canonical SPDI:: NC_000023.11:56796497:C:G
Gene:: NBDY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.56796498C>G, NC_000023.10:g.56822931C>G

Select item 149023398020.

rs1490233980 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:56816185 (GRCh38)
X:56842618 (GRCh37)
Canonical SPDI:: NC_000023.11:56816184:A:C
Gene:: NBDY (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/2 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.56816185A>C, NC_000023.10:g.56842618A>C

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