SNP Links for Gene (Select 653316) - SNP

Links from Gene

Items: 1 to 20 of 12707

<< First< Prev

Page of 636

Next >Last >>

Select item 14915805371.

rs1491580537 has merged into rs199997128 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 5:178008131 (GRCh38)
5:177435132 (GRCh37)
Canonical SPDI:: NC_000005.10:178008120:AAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:178008120:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:178008120:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:178008120:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:178008120:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:178008120:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:178008120:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: FAM153CP (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.048333/29 (NorthernSweden)
-=0.127542/33759 (TOPMED)
HGVS:: NC_000005.10:g.178008131_178008132del, NC_000005.10:g.178008132del, NC_000005.10:g.178008132dup, NC_000005.10:g.178008131_178008132dup, NC_000005.10:g.178008130_178008132dup, NC_000005.10:g.178008129_178008132dup, NC_000005.10:g.178008128_178008132dup, NC_000005.9:g.177435132_177435133del, NC_000005.9:g.177435133del, NC_000005.9:g.177435133dup, NC_000005.9:g.177435132_177435133dup, NC_000005.9:g.177435131_177435133dup, NC_000005.9:g.177435130_177435133dup, NC_000005.9:g.177435129_177435133dup, NR_149722.1:n.440_441del, NR_149722.1:n.441del, NR_149722.1:n.441dup, NR_149722.1:n.440_441dup, NR_149722.1:n.439_441dup, NR_149722.1:n.438_441dup, NR_149722.1:n.437_441dup

Select item 14915507852.

rs1491550785 has merged into rs36051284 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:178055283 (GRCh38)
5:177482284 (GRCh37)
Canonical SPDI:: NC_000005.10:178055271:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:178055271:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:178055271:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:178055271:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:178055271:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:178055271:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:178055271:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:178055271:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:178055271:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:178055271:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178055271:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178055271:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178055271:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178055271:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FAM153CP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.394369/1975 (1000Genomes)
HGVS:: NC_000005.10:g.178055283_178055291del, NC_000005.10:g.178055284_178055291del, NC_000005.10:g.178055285_178055291del, NC_000005.10:g.178055286_178055291del, NC_000005.10:g.178055287_178055291del, NC_000005.10:g.178055288_178055291del, NC_000005.10:g.178055289_178055291del, NC_000005.10:g.178055290_178055291del, NC_000005.10:g.178055291del, NC_000005.10:g.178055291dup, NC_000005.10:g.178055290_178055291dup, NC_000005.10:g.178055289_178055291dup, NC_000005.10:g.178055288_178055291dup, NC_000005.10:g.178055286_178055291dup, NC_000005.9:g.177482284_177482292del, NC_000005.9:g.177482285_177482292del, NC_000005.9:g.177482286_177482292del, NC_000005.9:g.177482287_177482292del, NC_000005.9:g.177482288_177482292del, NC_000005.9:g.177482289_177482292del, NC_000005.9:g.177482290_177482292del, NC_000005.9:g.177482291_177482292del, NC_000005.9:g.177482292del, NC_000005.9:g.177482292dup, NC_000005.9:g.177482291_177482292dup, NC_000005.9:g.177482290_177482292dup, NC_000005.9:g.177482289_177482292dup, NC_000005.9:g.177482287_177482292dup

Select item 14914674893.

rs1491467489 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:178060093 (GRCh38)
5:177487094 (GRCh37)
Canonical SPDI:: NC_000005.10:178060092:CA:
Gene:: FAM153CP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.178060093_178060094del, NC_000005.9:g.177487094_177487095del

Select item 14914589254.

rs1491458925 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 5:178023515 (GRCh38)
5:177450517 (GRCh37)
Canonical SPDI:: NC_000005.10:178023515:A:AGA
Gene:: FAM153CP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
HGVS:: NC_000005.10:g.178023516_178023517insGA, NC_000005.9:g.177450517_177450518insGA

Select item 14914102565.

rs1491410256 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 5:178063946 (GRCh38)
5:177490948 (GRCh37)
Canonical SPDI:: NC_000005.10:178063946:T:TCT
Gene:: FAM153CP (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
TC=0.0002/3 (TOMMO)
HGVS:: NC_000005.10:g.178063947_178063948insCT, NC_000005.9:g.177490948_177490949insCT

Select item 14914064916.

rs1491406491 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:178005328 (GRCh38)
5:177432329 (GRCh37)
Canonical SPDI:: NC_000005.10:178005327:TA:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00003/4 (GnomAD)
HGVS:: NC_000005.10:g.178005328_178005329del, NC_000005.9:g.177432329_177432330del

Select item 14913454037.

rs1491345403 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:178042662 (GRCh38)
5:177469664 (GRCh37)
Canonical SPDI:: NC_000005.10:178042662::C
Gene:: FAM153CP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.178042662_178042663insC, NC_000005.9:g.177469663_177469664insC

Select item 14913449008.

rs1491344900 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 5:178017590 (GRCh38)
5:177444592 (GRCh37)
Canonical SPDI:: NC_000005.10:178017590:TT:TTCTT
Gene:: FAM153CP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0.00042/5 (ALFA)
HGVS:: NC_000005.10:g.178017592_178017593insCTT, NC_000005.9:g.177444593_177444594insCTT

Select item 14912739069.

rs1491273906 has merged into rs71274706 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 5:178030861 (GRCh38)
5:177457862 (GRCh37)
Canonical SPDI:: NC_000005.10:178030849:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:178030849:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:178030849:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:178030849:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:178030849:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:178030849:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: FAM153CP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.178030861_178030864del, NC_000005.10:g.178030863_178030864del, NC_000005.10:g.178030864del, NC_000005.10:g.178030864dup, NC_000005.10:g.178030863_178030864dup, NC_000005.10:g.178030862_178030864dup, NC_000005.9:g.177457862_177457865del, NC_000005.9:g.177457864_177457865del, NC_000005.9:g.177457865del, NC_000005.9:g.177457865dup, NC_000005.9:g.177457864_177457865dup, NC_000005.9:g.177457863_177457865dup

Select item 149126978010.

rs1491269780 has merged into rs145766403 [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,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:178063959 (GRCh38)
5:177490960 (GRCh37)
Canonical SPDI:: NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FAM153CP (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.178063959_178063973del, NC_000005.10:g.178063960_178063973del, NC_000005.10:g.178063961_178063973del, NC_000005.10:g.178063962_178063973del, NC_000005.10:g.178063963_178063973del, NC_000005.10:g.178063964_178063973del, NC_000005.10:g.178063965_178063973del, NC_000005.10:g.178063966_178063973del, NC_000005.10:g.178063967_178063973del, NC_000005.10:g.178063968_178063973del, NC_000005.10:g.178063969_178063973del, NC_000005.10:g.178063970_178063973del, NC_000005.10:g.178063971_178063973del, NC_000005.10:g.178063972_178063973del, NC_000005.10:g.178063973del, NC_000005.10:g.178063973dup, NC_000005.10:g.178063972_178063973dup, NC_000005.10:g.178063971_178063973dup, NC_000005.10:g.178063970_178063973dup, NC_000005.10:g.178063969_178063973dup, NC_000005.10:g.178063968_178063973dup, NC_000005.10:g.178063967_178063973dup, NC_000005.10:g.178063966_178063973dup, NC_000005.10:g.178063965_178063973dup, NC_000005.10:g.178063964_178063973dup, NC_000005.10:g.178063963_178063973dup, NC_000005.10:g.178063962_178063973dup, NC_000005.10:g.178063960_178063973dup, NC_000005.10:g.178063958_178063973dup, NC_000005.10:g.178063957_178063973dup, NC_000005.10:g.178063956_178063973dup, NC_000005.10:g.178063954_178063973dup, NC_000005.10:g.178063952_178063973dup, NC_000005.9:g.177490960_177490974del, NC_000005.9:g.177490961_177490974del, NC_000005.9:g.177490962_177490974del, NC_000005.9:g.177490963_177490974del, NC_000005.9:g.177490964_177490974del, NC_000005.9:g.177490965_177490974del, NC_000005.9:g.177490966_177490974del, NC_000005.9:g.177490967_177490974del, NC_000005.9:g.177490968_177490974del, NC_000005.9:g.177490969_177490974del, NC_000005.9:g.177490970_177490974del, NC_000005.9:g.177490971_177490974del, NC_000005.9:g.177490972_177490974del, NC_000005.9:g.177490973_177490974del, NC_000005.9:g.177490974del, NC_000005.9:g.177490974dup, NC_000005.9:g.177490973_177490974dup, NC_000005.9:g.177490972_177490974dup, NC_000005.9:g.177490971_177490974dup, NC_000005.9:g.177490970_177490974dup, NC_000005.9:g.177490969_177490974dup, NC_000005.9:g.177490968_177490974dup, NC_000005.9:g.177490967_177490974dup, NC_000005.9:g.177490966_177490974dup, NC_000005.9:g.177490965_177490974dup, NC_000005.9:g.177490964_177490974dup, NC_000005.9:g.177490963_177490974dup, NC_000005.9:g.177490961_177490974dup, NC_000005.9:g.177490959_177490974dup, NC_000005.9:g.177490958_177490974dup, NC_000005.9:g.177490957_177490974dup, NC_000005.9:g.177490955_177490974dup, NC_000005.9:g.177490953_177490974dup

Select item 149125983311.

rs1491259833 has merged into rs1225834034 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:178042672 (GRCh38)
5:177469673 (GRCh37)
Canonical SPDI:: NC_000005.10:178042661:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:178042661:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:178042661:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:178042661:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:178042661:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:178042661:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:178042661:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:178042661:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:178042661:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178042661:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178042661:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178042661:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FAM153CP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.178042672_178042680del, NC_000005.10:g.178042674_178042680del, NC_000005.10:g.178042675_178042680del, NC_000005.10:g.178042677_178042680del, NC_000005.10:g.178042678_178042680del, NC_000005.10:g.178042679_178042680del, NC_000005.10:g.178042680del, NC_000005.10:g.178042680dup, NC_000005.10:g.178042679_178042680dup, NC_000005.10:g.178042678_178042680dup, NC_000005.10:g.178042677_178042680dup, NC_000005.10:g.178042674_178042680dup, NC_000005.9:g.177469673_177469681del, NC_000005.9:g.177469675_177469681del, NC_000005.9:g.177469676_177469681del, NC_000005.9:g.177469678_177469681del, NC_000005.9:g.177469679_177469681del, NC_000005.9:g.177469680_177469681del, NC_000005.9:g.177469681del, NC_000005.9:g.177469681dup, NC_000005.9:g.177469680_177469681dup, NC_000005.9:g.177469679_177469681dup, NC_000005.9:g.177469678_177469681dup, NC_000005.9:g.177469675_177469681dup

Select item 149119745012.

rs1491197450 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAA [Show Flanks]
Chromosome:: 5:178008121 (GRCh38)
5:177435123 (GRCh37)
Canonical SPDI:: NC_000005.10:178008121:AAA:AAAGAAA
Gene:: FAM153CP (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAGAAA=0.00034/4 (ALFA)
AAAG=0.00043/42 (GnomAD)
HGVS:: NC_000005.10:g.178008124_178008125insGAAA, NC_000005.9:g.177435125_177435126insGAAA, NR_149722.1:n.433_434insGAAA

Select item 149115308013.

rs1491153080 has merged into rs57135189 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:178023526 (GRCh38)
5:177450527 (GRCh37)
Canonical SPDI:: NC_000005.10:178023514:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:178023514:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:178023514:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:178023514:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:178023514:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:178023514:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:178023514:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:178023514:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178023514:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178023514:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178023514:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178023514:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178023514:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178023514:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178023514:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:178023514:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FAM153CP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.178023526_178023536del, NC_000005.10:g.178023527_178023536del, NC_000005.10:g.178023529_178023536del, NC_000005.10:g.178023530_178023536del, NC_000005.10:g.178023531_178023536del, NC_000005.10:g.178023532_178023536del, NC_000005.10:g.178023535_178023536del, NC_000005.10:g.178023536del, NC_000005.10:g.178023536dup, NC_000005.10:g.178023535_178023536dup, NC_000005.10:g.178023534_178023536dup, NC_000005.10:g.178023533_178023536dup, NC_000005.10:g.178023532_178023536dup, NC_000005.10:g.178023531_178023536dup, NC_000005.10:g.178023530_178023536dup, NC_000005.10:g.178023529_178023536dup, NC_000005.9:g.177450527_177450537del, NC_000005.9:g.177450528_177450537del, NC_000005.9:g.177450530_177450537del, NC_000005.9:g.177450531_177450537del, NC_000005.9:g.177450532_177450537del, NC_000005.9:g.177450533_177450537del, NC_000005.9:g.177450536_177450537del, NC_000005.9:g.177450537del, NC_000005.9:g.177450537dup, NC_000005.9:g.177450536_177450537dup, NC_000005.9:g.177450535_177450537dup, NC_000005.9:g.177450534_177450537dup, NC_000005.9:g.177450533_177450537dup, NC_000005.9:g.177450532_177450537dup, NC_000005.9:g.177450531_177450537dup, NC_000005.9:g.177450530_177450537dup

Select item 149115059214.

rs1491150592 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:178026661 (GRCh38)
5:177453663 (GRCh37)
Canonical SPDI:: NC_000005.10:178026661:TTTTTT:TTTTTTT
Gene:: FAM153CP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.178026667dup, NC_000005.9:g.177453668dup

Select item 149109520315.

rs1491095203 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:178055271 (GRCh38)
5:177482272 (GRCh37)
Canonical SPDI:: NC_000005.10:178055270:CA:
Gene:: FAM153CP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00243/9 (TWINSUK)
-=0.00311/12 (ALSPAC)
HGVS:: NC_000005.10:g.178055271_178055272del, NC_000005.9:g.177482272_177482273del

Select item 149107241516.

rs1491072415 has merged into rs58692527 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 5:178062877 (GRCh38)
5:177489878 (GRCh37)
Canonical SPDI:: NC_000005.10:178062863:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000005.10:178062863:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000005.10:178062863:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000005.10:178062863:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000005.10:178062863:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000005.10:178062863:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:178062863:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:178062863:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:178062863:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:178062863:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:178062863:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:178062863:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:178062863:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:178062863:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: FAM153CP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGA=0./0 (ALFA)
HGVS:: NC_000005.10:g.178062865GA[6], NC_000005.10:g.178062865GA[7], NC_000005.10:g.178062865GA[8], NC_000005.10:g.178062865GA[9], NC_000005.10:g.178062865GA[10], NC_000005.10:g.178062865GA[12], NC_000005.10:g.178062865GA[13], NC_000005.10:g.178062865GA[14], NC_000005.10:g.178062865GA[15], NC_000005.10:g.178062865GA[16], NC_000005.10:g.178062865GA[17], NC_000005.10:g.178062865GA[18], NC_000005.10:g.178062865GA[19], NC_000005.10:g.178062865GA[20], NC_000005.9:g.177489866GA[6], NC_000005.9:g.177489866GA[7], NC_000005.9:g.177489866GA[8], NC_000005.9:g.177489866GA[9], NC_000005.9:g.177489866GA[10], NC_000005.9:g.177489866GA[12], NC_000005.9:g.177489866GA[13], NC_000005.9:g.177489866GA[14], NC_000005.9:g.177489866GA[15], NC_000005.9:g.177489866GA[16], NC_000005.9:g.177489866GA[17], NC_000005.9:g.177489866GA[18], NC_000005.9:g.177489866GA[19], NC_000005.9:g.177489866GA[20]

Select item 149088546417.

rs1490885464 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:178028738 (GRCh38)
5:177455739 (GRCh37)
Canonical SPDI:: NC_000005.10:178028737:T:G
Gene:: FAM153CP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.178028738T>G, NC_000005.9:g.177455739T>G

Select item 149085712518.

rs1490857125 has merged into rs145766403 [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,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:178063959 (GRCh38)
5:177490960 (GRCh37)
Canonical SPDI:: NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:178063945:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FAM153CP (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.178063959_178063973del, NC_000005.10:g.178063960_178063973del, NC_000005.10:g.178063961_178063973del, NC_000005.10:g.178063962_178063973del, NC_000005.10:g.178063963_178063973del, NC_000005.10:g.178063964_178063973del, NC_000005.10:g.178063965_178063973del, NC_000005.10:g.178063966_178063973del, NC_000005.10:g.178063967_178063973del, NC_000005.10:g.178063968_178063973del, NC_000005.10:g.178063969_178063973del, NC_000005.10:g.178063970_178063973del, NC_000005.10:g.178063971_178063973del, NC_000005.10:g.178063972_178063973del, NC_000005.10:g.178063973del, NC_000005.10:g.178063973dup, NC_000005.10:g.178063972_178063973dup, NC_000005.10:g.178063971_178063973dup, NC_000005.10:g.178063970_178063973dup, NC_000005.10:g.178063969_178063973dup, NC_000005.10:g.178063968_178063973dup, NC_000005.10:g.178063967_178063973dup, NC_000005.10:g.178063966_178063973dup, NC_000005.10:g.178063965_178063973dup, NC_000005.10:g.178063964_178063973dup, NC_000005.10:g.178063963_178063973dup, NC_000005.10:g.178063962_178063973dup, NC_000005.10:g.178063960_178063973dup, NC_000005.10:g.178063958_178063973dup, NC_000005.10:g.178063957_178063973dup, NC_000005.10:g.178063956_178063973dup, NC_000005.10:g.178063954_178063973dup, NC_000005.10:g.178063952_178063973dup, NC_000005.9:g.177490960_177490974del, NC_000005.9:g.177490961_177490974del, NC_000005.9:g.177490962_177490974del, NC_000005.9:g.177490963_177490974del, NC_000005.9:g.177490964_177490974del, NC_000005.9:g.177490965_177490974del, NC_000005.9:g.177490966_177490974del, NC_000005.9:g.177490967_177490974del, NC_000005.9:g.177490968_177490974del, NC_000005.9:g.177490969_177490974del, NC_000005.9:g.177490970_177490974del, NC_000005.9:g.177490971_177490974del, NC_000005.9:g.177490972_177490974del, NC_000005.9:g.177490973_177490974del, NC_000005.9:g.177490974del, NC_000005.9:g.177490974dup, NC_000005.9:g.177490973_177490974dup, NC_000005.9:g.177490972_177490974dup, NC_000005.9:g.177490971_177490974dup, NC_000005.9:g.177490970_177490974dup, NC_000005.9:g.177490969_177490974dup, NC_000005.9:g.177490968_177490974dup, NC_000005.9:g.177490967_177490974dup, NC_000005.9:g.177490966_177490974dup, NC_000005.9:g.177490965_177490974dup, NC_000005.9:g.177490964_177490974dup, NC_000005.9:g.177490963_177490974dup, NC_000005.9:g.177490961_177490974dup, NC_000005.9:g.177490959_177490974dup, NC_000005.9:g.177490958_177490974dup, NC_000005.9:g.177490957_177490974dup, NC_000005.9:g.177490955_177490974dup, NC_000005.9:g.177490953_177490974dup

Select item 149082121619.

rs1490821216 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:178035125 (GRCh38)
5:177462126 (GRCh37)
Canonical SPDI:: NC_000005.10:178035124:T:C
Gene:: FAM153CP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.178035125T>C, NC_000005.9:g.177462126T>C, NR_149722.1:n.529T>C, NM_001079527.1:c.-27T>C, NR_159407.1:n.215T>C, NM_001355471.1:c.-27T>C, NR_038353.1:n.181T>C

Select item 149079645420.

rs1490796454 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:178008346 (GRCh38)
5:177435347 (GRCh37)
Canonical SPDI:: NC_000005.10:178008345:T:C
Gene:: FAM153CP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.178008346T>C, NC_000005.9:g.177435347T>C

<< First< Prev

Page of 636

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 12707

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity