SNP Links for Gene (Select 81576) - SNP

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Select item 14915561581.

rs1491556158 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG [Show Flanks]
Chromosome:: 19:13732609 (GRCh38)
19:13843424 (GRCh37)
Canonical SPDI:: NC_000019.10:13732609::AG
Gene:: YJU2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
HGVS:: NC_000019.10:g.13732609_13732610insAG, NC_000019.9:g.13843423_13843424insAG

Select item 14915348112.

rs1491534811 [Homo sapiens]

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

Select item 14915019673.

rs1491501967 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 19:13759589 (GRCh38)
19:13870403 (GRCh37)
Canonical SPDI:: NC_000019.10:13759587:CTC:C
Gene:: YJU2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000031/4 (GnomAD)
HGVS:: NC_000019.10:g.13759589_13759590del, NC_000019.9:g.13870403_13870404del, NG_051243.1:g.98_99del

Select item 14914724514.

rs1491472451 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:13743878 (GRCh38)
19:13854693 (GRCh37)
Canonical SPDI:: NC_000019.10:13743878:A:AA
Gene:: YJU2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000011/1 (GnomAD)
HGVS:: NC_000019.10:g.13743879dup, NC_000019.9:g.13854693dup

Select item 14914107185.

rs1491410718 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:13732610 (GRCh38)
19:13843424 (GRCh37)
Canonical SPDI:: NC_000019.10:13732608:TCT:T
Gene:: YJU2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000112/13 (GnomAD)
-=0.000142/2 (TOMMO)
HGVS:: NC_000019.10:g.13732610_13732611del, NC_000019.9:g.13843424_13843425del

Select item 14913772876.

rs1491377287 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 19:13730267 (GRCh38)
19:13841082 (GRCh37)
Canonical SPDI:: NC_000019.10:13730267:G:GCG
Gene:: YJU2B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: GC=0.00075/56 (GnomAD)
GC=0.00216/32 (TOMMO)
HGVS:: NC_000019.10:g.13730268_13730269insCG, NC_000019.9:g.13841082_13841083insCG

Select item 14913658747.

rs1491365874 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:13761726 (GRCh38)
19:13872540 (GRCh37)
Canonical SPDI:: NC_000019.10:13761725:AT:
Gene:: YJU2B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.13761726_13761727del, NC_000019.9:g.13872540_13872541del, NG_051243.1:g.2235_2236del

Select item 14913159578.

rs1491315957 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:13745725 (GRCh38)
19:13856539 (GRCh37)
Canonical SPDI:: NC_000019.10:13745722:ATAT:AT
Gene:: YJU2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
-=0.00019/16 (GnomAD)
HGVS:: NC_000019.10:g.13745723AT[1], NC_000019.9:g.13856537AT[1]

Select item 14913140009.

rs1491314000 has merged into rs545326674 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 19:13730282 (GRCh38)
19:13841096 (GRCh37)
Canonical SPDI:: NC_000019.10:13730266:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000019.10:13730266:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000019.10:13730266:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000019.10:13730266:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:13730266:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:13730266:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:13730266:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:13730266:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:13730266:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:13730266:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:13730266:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:13730266:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:13730266:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:13730266:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: YJU2B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.375/3 (KOREAN)
HGVS:: NC_000019.10:g.13730268GT[7], NC_000019.10:g.13730268GT[9], NC_000019.10:g.13730268GT[10], NC_000019.10:g.13730268GT[11], NC_000019.10:g.13730268GT[12], NC_000019.10:g.13730268GT[13], NC_000019.10:g.13730268GT[14], NC_000019.10:g.13730268GT[15], NC_000019.10:g.13730268GT[17], NC_000019.10:g.13730268GT[18], NC_000019.10:g.13730268GT[19], NC_000019.10:g.13730268GT[20], NC_000019.10:g.13730268GT[21], NC_000019.10:g.13730268GT[23], NC_000019.9:g.13841082GT[7], NC_000019.9:g.13841082GT[9], NC_000019.9:g.13841082GT[10], NC_000019.9:g.13841082GT[11], NC_000019.9:g.13841082GT[12], NC_000019.9:g.13841082GT[13], NC_000019.9:g.13841082GT[14], NC_000019.9:g.13841082GT[15], NC_000019.9:g.13841082GT[17], NC_000019.9:g.13841082GT[18], NC_000019.9:g.13841082GT[19], NC_000019.9:g.13841082GT[20], NC_000019.9:g.13841082GT[21], NC_000019.9:g.13841082GT[23]

Select item 149130751410.

rs1491307514 has merged into rs71170552 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:13741163 (GRCh38)
19:13851977 (GRCh37)
Canonical SPDI:: NC_000019.10:13741151:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:13741151:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:13741151:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:13741151:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:13741151:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:13741151:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:13741151:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:13741151:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:13741151:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:13741151:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:13741151:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:13741151:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:13741151:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:13741151:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:13741151:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: YJU2B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000019.10:g.13741163_13741171del, NC_000019.10:g.13741165_13741171del, NC_000019.10:g.13741167_13741171del, NC_000019.10:g.13741168_13741171del, NC_000019.10:g.13741169_13741171del, NC_000019.10:g.13741170_13741171del, NC_000019.10:g.13741171del, NC_000019.10:g.13741171dup, NC_000019.10:g.13741170_13741171dup, NC_000019.10:g.13741169_13741171dup, NC_000019.10:g.13741168_13741171dup, NC_000019.10:g.13741167_13741171dup, NC_000019.10:g.13741166_13741171dup, NC_000019.10:g.13741165_13741171dup, NC_000019.10:g.13741171_13741172insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.13851977_13851985del, NC_000019.9:g.13851979_13851985del, NC_000019.9:g.13851981_13851985del, NC_000019.9:g.13851982_13851985del, NC_000019.9:g.13851983_13851985del, NC_000019.9:g.13851984_13851985del, NC_000019.9:g.13851985del, NC_000019.9:g.13851985dup, NC_000019.9:g.13851984_13851985dup, NC_000019.9:g.13851983_13851985dup, NC_000019.9:g.13851982_13851985dup, NC_000019.9:g.13851981_13851985dup, NC_000019.9:g.13851980_13851985dup, NC_000019.9:g.13851979_13851985dup, NC_000019.9:g.13851985_13851986insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149130565111.

rs1491305651 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GATAGATAGATAGATATCTA,GATAGATAGATATCTA,GATAGATATCTA,GATATCTA [Show Flanks]
Chromosome:: 19:13745691 (GRCh38)
19:13856506 (GRCh37)
Canonical SPDI:: NC_000019.10:13745691:TA:TAGATAGATAGATAGATATCTA,NC_000019.10:13745691:TA:TAGATAGATAGATATCTA,NC_000019.10:13745691:TA:TAGATAGATATCTA,NC_000019.10:13745691:TA:TAGATATCTA
Gene:: YJU2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAGATAGATATCTA=0./0 (ALFA)
HGVS:: NC_000019.10:g.13745692_13745693TAGA[4]TATCTA[1], NC_000019.10:g.13745692_13745693TAGA[3]TATCTA[1], NC_000019.10:g.13745692_13745693TAGA[2]TATCTA[1], NC_000019.10:g.13745693_13745694insGATATCTA, NC_000019.9:g.13856506_13856507TAGA[4]TATCTA[1], NC_000019.9:g.13856506_13856507TAGA[3]TATCTA[1], NC_000019.9:g.13856506_13856507TAGA[2]TATCTA[1], NC_000019.9:g.13856507_13856508insGATATCTA

Select item 149129858812.

rs1491298588 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:13743878 (GRCh38)
19:13854692 (GRCh37)
Canonical SPDI:: NC_000019.10:13743877:CA:
Gene:: YJU2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.13743878_13743879del, NC_000019.9:g.13854692_13854693del

Select item 149118362513.

rs1491183625 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:13755474 (GRCh38)
19:13866289 (GRCh37)
Canonical SPDI:: NC_000019.10:13755474::T
Gene:: YJU2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00049/8 (ALFA)
T=0.00015/18 (GnomAD)
HGVS:: NC_000019.10:g.13755474_13755475insT, NC_000019.9:g.13866288_13866289insT

Select item 149114624214.

rs1491146242 has merged into rs1347799903 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG [Show Flanks]
Chromosome:: 19:13750577 (GRCh38)
19:13861391 (GRCh37)
Canonical SPDI:: NC_000019.10:13750573:GGGGG:GGG,NC_000019.10:13750573:GGGGG:GGGG,NC_000019.10:13750573:GGGGG:GGGGGG
Gene:: YJU2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
HGVS:: NC_000019.10:g.13750577_13750578del, NC_000019.10:g.13750578del, NC_000019.10:g.13750578dup, NC_000019.9:g.13861391_13861392del, NC_000019.9:g.13861392del, NC_000019.9:g.13861392dup

Select item 149114214515.

rs1491142145 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GATA [Show Flanks]
Chromosome:: 19:13745728 (GRCh38)
19:13856543 (GRCh37)
Canonical SPDI:: NC_000019.10:13745728:ATA:ATAGATA
Gene:: YJU2B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAGATA=0.00017/2 (ALFA)
ATAG=0.00004/0 (TOMMO)
HGVS:: NC_000019.10:g.13745731_13745732insGATA, NC_000019.9:g.13856545_13856546insGATA

Select item 149108945516.

rs1491089455 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:13759588 (GRCh38)
19:13870403 (GRCh37)
Canonical SPDI:: NC_000019.10:13759588:T:TT
Gene:: YJU2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.13759589dup, NC_000019.9:g.13870403dup, NG_051243.1:g.98dup

Select item 149103468317.

rs1491034683 has merged into rs35675919 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:13755471 (GRCh38)
19:13866285 (GRCh37)
Canonical SPDI:: NC_000019.10:13755459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:13755459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:13755459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:13755459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:13755459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:13755459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:13755459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:13755459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:13755459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:13755459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:13755459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:13755459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: YJU2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.0516/199 (ALSPAC)
A=0.2742/1373 (1000Genomes)
HGVS:: NC_000019.10:g.13755471_13755478del, NC_000019.10:g.13755472_13755478del, NC_000019.10:g.13755473_13755478del, NC_000019.10:g.13755474_13755478del, NC_000019.10:g.13755475_13755478del, NC_000019.10:g.13755476_13755478del, NC_000019.10:g.13755477_13755478del, NC_000019.10:g.13755478del, NC_000019.10:g.13755478dup, NC_000019.10:g.13755477_13755478dup, NC_000019.10:g.13755476_13755478dup, NC_000019.10:g.13755475_13755478dup, NC_000019.9:g.13866285_13866292del, NC_000019.9:g.13866286_13866292del, NC_000019.9:g.13866287_13866292del, NC_000019.9:g.13866288_13866292del, NC_000019.9:g.13866289_13866292del, NC_000019.9:g.13866290_13866292del, NC_000019.9:g.13866291_13866292del, NC_000019.9:g.13866292del, NC_000019.9:g.13866292dup, NC_000019.9:g.13866291_13866292dup, NC_000019.9:g.13866290_13866292dup, NC_000019.9:g.13866289_13866292dup

Select item 149072121818.

rs1490721218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13760953 (GRCh38)
19:13871767 (GRCh37)
Canonical SPDI:: NC_000019.10:13760952:G:A
Gene:: YJU2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000248/4 (TOMMO)
A=0.000312/2 (1000Genomes)
A=0.000546/1 (Korea1K)
A=0.001369/4 (KOREAN)
HGVS:: NC_000019.10:g.13760953G>A, NC_000019.9:g.13871767G>A, NG_051243.1:g.1462G>A

Select item 149065783319.

rs1490657833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13748464 (GRCh38)
19:13859278 (GRCh37)
Canonical SPDI:: NC_000019.10:13748463:G:A
Gene:: YJU2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.13748464G>A, NC_000019.9:g.13859278G>A

Select item 149035434820.

rs1490354348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13753876 (GRCh38)
19:13864690 (GRCh37)
Canonical SPDI:: NC_000019.10:13753875:G:A
Gene:: YJU2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.13753876G>A, NC_000019.9:g.13864690G>A

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