SNP Links for Gene (Select 92558) - SNP

Links from Gene

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Select item 14915540821.

rs1491554082 has merged into rs1182646751 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 12:120005294 (GRCh38)
12:120443098 (GRCh37)
Canonical SPDI:: NC_000012.12:120005293:TTTTTTTT:TTTTTTT,NC_000012.12:120005293:TTTTTTTT:TTTTTTTTT
Gene:: BICDL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.00055/1 (Korea1K)
HGVS:: NC_000012.12:g.120005301del, NC_000012.12:g.120005301dup, NC_000012.11:g.120443105del, NC_000012.11:g.120443105dup

Select item 14915349942.

rs1491534994 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:120005293 (GRCh38)
12:120443097 (GRCh37)
Canonical SPDI:: NC_000012.12:120005292:AT:
Gene:: BICDL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000214/3 (ALFA)
-=0.000043/6 (GnomAD)
-=0.000064/17 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.120005293_120005294del, NC_000012.11:g.120443097_120443098del

Select item 14914711953.

rs1491471195 has merged into rs1443199845 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>-,AGAG [Show Flanks]
Chromosome:: 12:120013439 (GRCh38)
12:120451243 (GRCh37)
Canonical SPDI:: NC_000012.12:120013436:AGAG:AG,NC_000012.12:120013436:AGAG:AGAGAG
Gene:: BICDL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAG=0./0 (ALFA)
HGVS:: NC_000012.12:g.120013437AG[1], NC_000012.12:g.120013437AG[3], NC_000012.11:g.120451241AG[1], NC_000012.11:g.120451241AG[3]

Select item 14914693334.

rs1491469333 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:119996950 (GRCh38)
12:120434754 (GRCh37)
Canonical SPDI:: NC_000012.12:119996949:AT:
Gene:: BICDL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000044/6 (GnomAD)
HGVS:: NC_000012.12:g.119996950_119996951del, NC_000012.11:g.120434754_120434755del

Select item 14914575085.

rs1491457508 has merged into rs71072590 [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,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:120008162 (GRCh38)
12:120445966 (GRCh37)
Canonical SPDI:: NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120008150:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BICDL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.120008162_120008176del, NC_000012.12:g.120008163_120008176del, NC_000012.12:g.120008164_120008176del, NC_000012.12:g.120008165_120008176del, NC_000012.12:g.120008166_120008176del, NC_000012.12:g.120008167_120008176del, NC_000012.12:g.120008168_120008176del, NC_000012.12:g.120008169_120008176del, NC_000012.12:g.120008170_120008176del, NC_000012.12:g.120008171_120008176del, NC_000012.12:g.120008172_120008176del, NC_000012.12:g.120008173_120008176del, NC_000012.12:g.120008174_120008176del, NC_000012.12:g.120008175_120008176del, NC_000012.12:g.120008176del, NC_000012.12:g.120008176dup, NC_000012.12:g.120008175_120008176dup, NC_000012.12:g.120008174_120008176dup, NC_000012.12:g.120008173_120008176dup, NC_000012.12:g.120008172_120008176dup, NC_000012.12:g.120008171_120008176dup, NC_000012.12:g.120008170_120008176dup, NC_000012.12:g.120008167_120008176dup, NC_000012.12:g.120008166_120008176dup, NC_000012.12:g.120008163_120008176dup, NC_000012.12:g.120008161_120008176dup, NC_000012.12:g.120008160_120008176dup, NC_000012.12:g.120008176_120008177insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.120445966_120445980del, NC_000012.11:g.120445967_120445980del, NC_000012.11:g.120445968_120445980del, NC_000012.11:g.120445969_120445980del, NC_000012.11:g.120445970_120445980del, NC_000012.11:g.120445971_120445980del, NC_000012.11:g.120445972_120445980del, NC_000012.11:g.120445973_120445980del, NC_000012.11:g.120445974_120445980del, NC_000012.11:g.120445975_120445980del, NC_000012.11:g.120445976_120445980del, NC_000012.11:g.120445977_120445980del, NC_000012.11:g.120445978_120445980del, NC_000012.11:g.120445979_120445980del, NC_000012.11:g.120445980del, NC_000012.11:g.120445980dup, NC_000012.11:g.120445979_120445980dup, NC_000012.11:g.120445978_120445980dup, NC_000012.11:g.120445977_120445980dup, NC_000012.11:g.120445976_120445980dup, NC_000012.11:g.120445975_120445980dup, NC_000012.11:g.120445974_120445980dup, NC_000012.11:g.120445971_120445980dup, NC_000012.11:g.120445970_120445980dup, NC_000012.11:g.120445967_120445980dup, NC_000012.11:g.120445965_120445980dup, NC_000012.11:g.120445964_120445980dup, NC_000012.11:g.120445980_120445981insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914113246.

rs1491411324 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 12:120008151 (GRCh38)
12:120445956 (GRCh37)
Canonical SPDI:: NC_000012.12:120008151:TTT:TTTCTTT
Gene:: BICDL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTCTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.120008154_120008155insCTTT, NC_000012.11:g.120445958_120445959insCTTT

Select item 14913924467.

rs1491392446 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 12:120078540 (GRCh38)
12:120516344 (GRCh37)
Canonical SPDI:: NC_000012.12:120078534:GAGAGAG:GAGAG
Gene:: BICDL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAGAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120078536AG[2], NC_000012.11:g.120516340AG[2]

Select item 14912757478.

rs1491275747 has merged into rs995319915 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 12:120022427 (GRCh38)
12:120460231 (GRCh37)
Canonical SPDI:: NC_000012.12:120022422:TTTTTT:TTTT,NC_000012.12:120022422:TTTTTT:TTTTT
Gene:: BICDL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000012.12:g.120022427_120022428del, NC_000012.12:g.120022428del, NC_000012.11:g.120460231_120460232del, NC_000012.11:g.120460232del

Select item 14912330939.

rs1491233093 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G [Show Flanks]
Chromosome:: 12:120089305 (GRCh38)
12:120527109 (GRCh37)
Canonical SPDI:: NC_000012.12:120089303:GGGG:G,NC_000012.12:120089303:GGGG:GG
Gene:: BICDL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000035/4 (GnomAD)
HGVS:: NC_000012.12:g.120089305_120089307del, NC_000012.12:g.120089306_120089307del, NC_000012.11:g.120527109_120527111del, NC_000012.11:g.120527110_120527111del

Select item 149122565610.

rs1491225656 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG,TGTG,TGTGTG,TGTGTGTG [Show Flanks]
Chromosome:: 12:120013437 (GRCh38)
12:120451242 (GRCh37)
Canonical SPDI:: NC_000012.12:120013437:G:GTG,NC_000012.12:120013437:G:GTGTG,NC_000012.12:120013437:G:GTGTGTG,NC_000012.12:120013437:G:GTGTGTGTG
Gene:: BICDL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTG=0./0 (ALFA)
HGVS:: NC_000012.12:g.120013438_120013439insTG, NC_000012.12:g.120013438_120013439insTGTG, NC_000012.12:g.120013439TG[3], NC_000012.12:g.120013439TG[4], NC_000012.11:g.120451242_120451243insTG, NC_000012.11:g.120451242_120451243insTGTG, NC_000012.11:g.120451243TG[3], NC_000012.11:g.120451243TG[4]

Select item 149115564411.

rs1491155644 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 12:120091694 (GRCh38)
12:120529498 (GRCh37)
Canonical SPDI:: NC_000012.12:120091692:GTG:G
Gene:: BICDL1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.120091694_120091695del, NC_000012.11:g.120529498_120529499del

Select item 149106439012.

rs1491064390 has merged into rs10545057 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC [Show Flanks]
Chromosome:: 12:119996694 (GRCh38)
12:120434498 (GRCh37)
Canonical SPDI:: NC_000012.12:119996681:ACACACACACACACACACACAC:ACACACACACAC,NC_000012.12:119996681:ACACACACACACACACACACAC:ACACACACACACAC,NC_000012.12:119996681:ACACACACACACACACACACAC:ACACACACACACACAC,NC_000012.12:119996681:ACACACACACACACACACACAC:ACACACACACACACACAC,NC_000012.12:119996681:ACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000012.12:119996681:ACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000012.12:119996681:ACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000012.12:119996681:ACACACACACACACACACACAC:ACACACACACACACACACACACACACAC
Gene:: BICDL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACAC=0./0 (ALFA)
-=0.24002/1202 (1000Genomes)
HGVS:: NC_000012.12:g.119996682AC[6], NC_000012.12:g.119996682AC[7], NC_000012.12:g.119996682AC[8], NC_000012.12:g.119996682AC[9], NC_000012.12:g.119996682AC[10], NC_000012.12:g.119996682AC[12], NC_000012.12:g.119996682AC[13], NC_000012.12:g.119996682AC[14], NC_000012.11:g.120434486AC[6], NC_000012.11:g.120434486AC[7], NC_000012.11:g.120434486AC[8], NC_000012.11:g.120434486AC[9], NC_000012.11:g.120434486AC[10], NC_000012.11:g.120434486AC[12], NC_000012.11:g.120434486AC[13], NC_000012.11:g.120434486AC[14]

Select item 149104897113.

rs1491048971 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:120003177 (GRCh38)
12:120440981 (GRCh37)
Canonical SPDI:: NC_000012.12:120003175:ACA:A
Gene:: BICDL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000074/10 (GnomAD)
HGVS:: NC_000012.12:g.120003177_120003178del, NC_000012.11:g.120440981_120440982del

Select item 149103193214.

rs1491031932 has merged into rs72233478 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 12:120070746 (GRCh38)
12:120508550 (GRCh37)
Canonical SPDI:: NC_000012.12:120070733:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:120070733:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:120070733:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:120070733:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:120070733:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:120070733:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:120070733:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: BICDL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.05/30 (NorthernSweden)
HGVS:: NC_000012.12:g.120070746_120070748del, NC_000012.12:g.120070747_120070748del, NC_000012.12:g.120070748del, NC_000012.12:g.120070748dup, NC_000012.12:g.120070747_120070748dup, NC_000012.12:g.120070746_120070748dup, NC_000012.12:g.120070745_120070748dup, NC_000012.11:g.120508550_120508552del, NC_000012.11:g.120508551_120508552del, NC_000012.11:g.120508552del, NC_000012.11:g.120508552dup, NC_000012.11:g.120508551_120508552dup, NC_000012.11:g.120508550_120508552dup, NC_000012.11:g.120508549_120508552dup

Select item 149099262215.

rs1490992622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:120070001 (GRCh38)
12:120507805 (GRCh37)
Canonical SPDI:: NC_000012.12:120070000:C:G,NC_000012.12:120070000:C:T
Gene:: BICDL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120070001C>G, NC_000012.12:g.120070001C>T, NC_000012.11:g.120507805C>G, NC_000012.11:g.120507805C>T

Select item 149098804116.

rs1490988041 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:119996238 (GRCh38)
12:120434042 (GRCh37)
Canonical SPDI:: NC_000012.12:119996237:A:G
Gene:: BICDL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.119996238A>G, NC_000012.11:g.120434042A>G

Select item 149094369817.

rs1490943698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:120010606 (GRCh38)
12:120448410 (GRCh37)
Canonical SPDI:: NC_000012.12:120010605:C:G
Gene:: BICDL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.120010606C>G, NC_000012.11:g.120448410C>G

Select item 149090599218.

rs1490905992 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120003831 (GRCh38)
12:120441635 (GRCh37)
Canonical SPDI:: NC_000012.12:120003830:A:G
Gene:: BICDL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.120003831A>G, NC_000012.11:g.120441635A>G

Select item 149085870019.

rs1490858700 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120063916 (GRCh38)
12:120501720 (GRCh37)
Canonical SPDI:: NC_000012.12:120063915:A:G
Gene:: BICDL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.120063916A>G, NC_000012.11:g.120501720A>G

Select item 149083469720.

rs1490834697 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120017156 (GRCh38)
12:120454960 (GRCh37)
Canonical SPDI:: NC_000012.12:120017155:A:G
Gene:: BICDL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000071/1 (TOMMO)
HGVS:: NC_000012.12:g.120017156A>G, NC_000012.11:g.120454960A>G

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