SNP Links for Gene (Select 64077) - SNP

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Items: 1 to 20 of 38143

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Select item 14915790461.

rs1491579046 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GG [Show Flanks]
Chromosome:: 10:124507061 (GRCh38)
10:126195631 (GRCh37)
Canonical SPDI:: NC_000010.11:124507061::G,NC_000010.11:124507061::GG
Gene:: LHPP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000010.11:g.124507061_124507062insG, NC_000010.11:g.124507061_124507062insGG, NC_000010.10:g.126195630_126195631insG, NC_000010.10:g.126195630_126195631insGG

Select item 14915766842.

rs1491576684 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCA,CCCA,CCCG,G [Show Flanks]
Chromosome:: 10:124506273 (GRCh38)
10:126194843 (GRCh37)
Canonical SPDI:: NC_000010.11:124506273::CCA,NC_000010.11:124506273::CCCA,NC_000010.11:124506273::CCCG,NC_000010.11:124506273::G
Gene:: LHPP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCA=0./0 (ALFA)
CCCA=0.000008/1 (GnomAD)
CCCG=0.000036/1 (TOMMO)
HGVS:: NC_000010.11:g.124506273_124506274insCCA, NC_000010.11:g.124506273_124506274insCCCA, NC_000010.11:g.124506273_124506274insCCCG, NC_000010.11:g.124506273_124506274insG, NC_000010.10:g.126194842_126194843insCCA, NC_000010.10:g.126194842_126194843insCCCA, NC_000010.10:g.126194842_126194843insCCCG, NC_000010.10:g.126194842_126194843insG

Select item 14915731763.

rs1491573176 [Homo sapiens]

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

Select item 14915705554.

rs1491570555 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:124506257 (GRCh38)
10:126194826 (GRCh37)
Canonical SPDI:: NC_000010.11:124506255:ACA:A
Gene:: LHPP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.124506257_124506258del, NC_000010.10:g.126194826_126194827del

Select item 14915657675.

rs1491565767 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:124471516 (GRCh38)
10:126160086 (GRCh37)
Canonical SPDI:: NC_000010.11:124471516::A
Gene:: LHPP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.124471516_124471517insA, NC_000010.10:g.126160085_126160086insA

Select item 14915614386.

rs1491561438 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>CCT [Show Flanks]
Chromosome:: 10:124547741 (GRCh38)
10:126236310 (GRCh37)
Canonical SPDI:: NC_000010.11:124547740:GG:CCT
Gene:: LHPP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000010.11:g.124547741_124547742delinsCCT, NC_000010.10:g.126236310_126236311delinsCCT

Select item 14915441747.

rs1491544174 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 10:124545645 (GRCh38)
10:126234214 (GRCh37)
Canonical SPDI:: NC_000010.11:124545644:AG:
Gene:: LHPP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.124545645_124545646del, NC_000010.10:g.126234214_126234215del

Select item 14915346718.

rs1491534671 has merged into rs35305882 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 10:124463229 (GRCh38)
10:126151798 (GRCh37)
Canonical SPDI:: NC_000010.11:124463221:TTTTTTTTTT:TTTTTTT,NC_000010.11:124463221:TTTTTTTTTT:TTTTTTTT,NC_000010.11:124463221:TTTTTTTTTT:TTTTTTTTT,NC_000010.11:124463221:TTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:124463221:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: LHPP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.2/8 (GENOME_DK)
T=0.226667/136 (NorthernSweden)
T=0.25506/983 (ALSPAC)
T=0.272114/1009 (TWINSUK)
T=0.279241/1251 (Estonian)
T=0.293331/1469 (1000Genomes)
T=0.302554/80083 (TOPMED)
HGVS:: NC_000010.11:g.124463229_124463231del, NC_000010.11:g.124463230_124463231del, NC_000010.11:g.124463231del, NC_000010.11:g.124463231dup, NC_000010.11:g.124463230_124463231dup, NC_000010.10:g.126151798_126151800del, NC_000010.10:g.126151799_126151800del, NC_000010.10:g.126151800del, NC_000010.10:g.126151800dup, NC_000010.10:g.126151799_126151800dup

Select item 14915237599.

rs1491523759 has merged into rs539116106 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCTCCACCCCCCCCCCCC,CCCCCCCCCCCCCTCCCCCCCCCC,CCCCCCCCCCCCTCCTCCCCCCCCCCCC [Show Flanks]
Chromosome:: 10:124506272 (GRCh38)
10:126194841 (GRCh37)
Canonical SPDI:: NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCTCCACCCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCTCCCCCCCCCC,NC_000010.11:124506263:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCTCCTCCCCCCCCCCCC
Gene:: LHPP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0.00032/5 (ALFA)
CCCC=0.00431/16 (TWINSUK)
CCCC=0.01194/46 (ALSPAC)
HGVS:: NC_000010.11:g.124506272_124506273del, NC_000010.11:g.124506273del, NC_000010.11:g.124506273dup, NC_000010.11:g.124506272_124506273dup, NC_000010.11:g.124506271_124506273dup, NC_000010.11:g.124506270_124506273dup, NC_000010.11:g.124506269_124506273dup, NC_000010.11:g.124506268_124506273dup, NC_000010.11:g.124506267_124506273dup, NC_000010.11:g.124506266_124506273dup, NC_000010.11:g.124506265_124506273dup, NC_000010.11:g.124506264_124506273dup, NC_000010.11:g.124506273_124506274insCCCCCCCCCCC, NC_000010.11:g.124506273_124506274insCCCCCCCCCCCC, NC_000010.11:g.124506273_124506274insCCCCCCCCCCCCC, NC_000010.11:g.124506273_124506274insCCCCCCCCCCCCCC, NC_000010.11:g.124506273_124506274insCCCCCCCCCCCCCCC, NC_000010.11:g.124506273_124506274insCCCCCCCCCCCCCCCC, NC_000010.11:g.124506273_124506274insCCCCCCCCCCCCCCCCC, NC_000010.11:g.124506273_124506274insCCCCCCCCCCCCCCCCCC, NC_000010.11:g.124506273_124506274insCCCCCCCCCCCCCCCCCCC, NC_000010.11:g.124506273_124506274insCCCCCCCCCCCCCCCCCCCC, NC_000010.11:g.124506273_124506274insCCCCCCCCCCCCCCCCCCCCC, NC_000010.11:g.124506273_124506274insCCCCCCCCCCCCCCCCCCCCCC, NC_000010.11:g.124506273_124506274insCCCCCCCCCCCCCCCCCCCCCCC, NC_000010.11:g.124506273_124506274insCCCCCCCCCCCCCCCCCCCCCCCC, NC_000010.11:g.124506273_124506274insCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000010.11:g.124506273_124506274insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000010.11:g.124506273_124506274insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000010.11:g.124506273_124506274insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000010.11:g.124506264_124506273C[23]TCCACCCCCCCCCCCC[1], NC_000010.11:g.124506264_124506273C[21]TCCCCCCCCCC[1], NC_000010.11:g.124506264_124506273C[20]TCC[2]C[10], NC_000010.10:g.126194841_126194842del, NC_000010.10:g.126194842del, NC_000010.10:g.126194842dup, NC_000010.10:g.126194841_126194842dup, NC_000010.10:g.126194840_126194842dup, NC_000010.10:g.126194839_126194842dup, NC_000010.10:g.126194838_126194842dup, NC_000010.10:g.126194837_126194842dup, NC_000010.10:g.126194836_126194842dup, NC_000010.10:g.126194835_126194842dup, NC_000010.10:g.126194834_126194842dup, NC_000010.10:g.126194833_126194842dup, NC_000010.10:g.126194842_126194843insCCCCCCCCCCC, NC_000010.10:g.126194842_126194843insCCCCCCCCCCCC, NC_000010.10:g.126194842_126194843insCCCCCCCCCCCCC, NC_000010.10:g.126194842_126194843insCCCCCCCCCCCCCC, NC_000010.10:g.126194842_126194843insCCCCCCCCCCCCCCC, NC_000010.10:g.126194842_126194843insCCCCCCCCCCCCCCCC, NC_000010.10:g.126194842_126194843insCCCCCCCCCCCCCCCCC, NC_000010.10:g.126194842_126194843insCCCCCCCCCCCCCCCCCC, NC_000010.10:g.126194842_126194843insCCCCCCCCCCCCCCCCCCC, NC_000010.10:g.126194842_126194843insCCCCCCCCCCCCCCCCCCCC, NC_000010.10:g.126194842_126194843insCCCCCCCCCCCCCCCCCCCCC, NC_000010.10:g.126194842_126194843insCCCCCCCCCCCCCCCCCCCCCC, NC_000010.10:g.126194842_126194843insCCCCCCCCCCCCCCCCCCCCCCC, NC_000010.10:g.126194842_126194843insCCCCCCCCCCCCCCCCCCCCCCCC, NC_000010.10:g.126194842_126194843insCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000010.10:g.126194842_126194843insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000010.10:g.126194842_126194843insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000010.10:g.126194842_126194843insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000010.10:g.126194833_126194842C[23]TCCACCCCCCCCCCCC[1], NC_000010.10:g.126194833_126194842C[21]TCCCCCCCCCC[1], NC_000010.10:g.126194833_126194842C[20]TCC[2]C[10]

Select item 149151856610.

rs1491518566 has merged into rs370857606 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 10:124471546 (GRCh38)
10:126160115 (GRCh37)
Canonical SPDI:: NC_000010.11:124471543:TTTT:TT,NC_000010.11:124471543:TTTT:TTT
Gene:: LHPP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000010.11:g.124471546_124471547del, NC_000010.11:g.124471547del, NC_000010.10:g.126160115_126160116del, NC_000010.10:g.126160116del

Select item 149151225711.

rs1491512257 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG [Show Flanks]
Chromosome:: 10:124529812 (GRCh38)
10:126218382 (GRCh37)
Canonical SPDI:: NC_000010.11:124529812:G:GTG
Gene:: LHPP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: GT=0.000069/8 (GnomAD)
HGVS:: NC_000010.11:g.124529813_124529814insTG, NC_000010.10:g.126218382_126218383insTG

Select item 149149868212.

rs1491498682 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG,TGGGGTAGACAGGATTTCAGGTG [Show Flanks]
Chromosome:: 10:124507796 (GRCh38)
10:126196366 (GRCh37)
Canonical SPDI:: NC_000010.11:124507796:G:GTG,NC_000010.11:124507796:G:GTGGGGTAGACAGGATTTCAGGTG
Gene:: LHPP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GTG=0./0 (ALFA)
GTGGGGTAGACAGGATTTCAGGT=0.00013/1 (TOMMO)
HGVS:: NC_000010.11:g.124507797_124507798insTG, NC_000010.11:g.124507797_124507798insTGGGGTAGACAGGATTTCAGGTG, NC_000010.10:g.126196366_126196367insTG, NC_000010.10:g.126196366_126196367insTGGGGTAGACAGGATTTCAGGTG

Select item 149149325513.

rs1491493255 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:124584363 (GRCh38)
10:126272932 (GRCh37)
Canonical SPDI:: NC_000010.11:124584362:CA:
Gene:: LHPP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.124584363_124584364del, NC_000010.10:g.126272932_126272933del

Select item 149146967714.

rs1491469677 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCAC [Show Flanks]
Chromosome:: 10:124512183 (GRCh38)
10:126200753 (GRCh37)
Canonical SPDI:: NC_000010.11:124512183:GGCAC:GGCACGGCAC
Gene:: LHPP (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGCACGGCAC=0./0 (ALFA)
GGCAC=0.000004/1 (TOPMED)
GGCAC=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.124512184_124512188dup, NC_000010.10:g.126200753_126200757dup

Select item 149144507015.

rs1491445070 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATTTTATATATA [Show Flanks]
Chromosome:: 10:124471524 (GRCh38)
10:126160094 (GRCh37)
Canonical SPDI:: NC_000010.11:124471524::A,NC_000010.11:124471524::ATTTTATATATA
Gene:: LHPP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ATTTTATATATA=0./0 (ALFA)
HGVS:: NC_000010.11:g.124471524_124471525insA, NC_000010.11:g.124471524_124471525insATTTTATATATA, NC_000010.10:g.126160093_126160094insA, NC_000010.10:g.126160093_126160094insATTTTATATATA

Select item 149144008716.

rs1491440087 has merged into rs71029203 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCCATCCATCCA>-,TCCA,TCCATCCA,TCCATCCATCCATCCA,TCCATCCATCCATCCATCCA [Show Flanks]
Chromosome:: 10:124599014 (GRCh38)
10:126287583 (GRCh37)
Canonical SPDI:: NC_000010.11:124598998:CCATCCATCCATCCATCCATCCATCCA:CCATCCATCCATCCA,NC_000010.11:124598998:CCATCCATCCATCCATCCATCCATCCA:CCATCCATCCATCCATCCA,NC_000010.11:124598998:CCATCCATCCATCCATCCATCCATCCA:CCATCCATCCATCCATCCATCCA,NC_000010.11:124598998:CCATCCATCCATCCATCCATCCATCCA:CCATCCATCCATCCATCCATCCATCCATCCA,NC_000010.11:124598998:CCATCCATCCATCCATCCATCCATCCA:CCATCCATCCATCCATCCATCCATCCATCCATCCA
Gene:: LHPP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCATCCATCCATCCATCCA=0./0 (ALFA)
-=0.089696/410 (1000Genomes)
-=0.126284/33426 (TOPMED)
HGVS:: NC_000010.11:g.124599002TCCA[3], NC_000010.11:g.124599002TCCA[4], NC_000010.11:g.124599002TCCA[5], NC_000010.11:g.124599002TCCA[7], NC_000010.11:g.124599002TCCA[8], NC_000010.10:g.126287571TCCA[3], NC_000010.10:g.126287571TCCA[4], NC_000010.10:g.126287571TCCA[5], NC_000010.10:g.126287571TCCA[7], NC_000010.10:g.126287571TCCA[8]

Select item 149142994617.

rs1491429946 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 10:124507061 (GRCh38)
10:126195630 (GRCh37)
Canonical SPDI:: NC_000010.11:124507060:TA:
Gene:: LHPP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00051/6 (ALFA)
-=0.00024/2 (TOMMO)
-=0.00079/14 (GnomAD)
HGVS:: NC_000010.11:g.124507061_124507062del, NC_000010.10:g.126195630_126195631del

Select item 149142384518.

rs1491423845 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 10:124512183 (GRCh38)
10:126200752 (GRCh37)
Canonical SPDI:: NC_000010.11:124512182:TG:
Gene:: LHPP (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000224/1 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.124512183_124512184del, NC_000010.10:g.126200752_126200753del

Select item 149142265319.

rs1491422653 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 10:124506274 (GRCh38)
10:126194843 (GRCh37)
Canonical SPDI:: NC_000010.11:124506272:CAC:C
Gene:: LHPP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.004974/59 (ALFA)
-=0.000547/1 (Korea1K)
-=0.004107/501 (GnomAD)
HGVS:: NC_000010.11:g.124506274_124506275del, NC_000010.10:g.126194843_126194844del

Select item 149141902620.

rs1491419026 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:124506264 (GRCh38)
10:126194834 (GRCh37)
Canonical SPDI:: NC_000010.11:124506264::T
Gene:: LHPP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000169/2 (ALFA)
T=0.00011/29 (TOPMED)
HGVS:: NC_000010.11:g.124506264_124506265insT, NC_000010.10:g.126194833_126194834insT

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