SNP Links for Gene (Select 10855) - SNP

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Select item 14915807831.

rs1491580783 has merged into rs35936108 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGCAGCAG>-,CAG,CAGCAG,CAGCAGCAGCAG,CAGCAGCAGCAGCAG,CAGCAGCAGCAGCAGCAG [Show Flanks]
Chromosome:: 4:83307422 (GRCh38)
4:84228575 (GRCh37)
Canonical SPDI:: NC_000004.12:83307408:GCAGCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAG,NC_000004.12:83307408:GCAGCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAG,NC_000004.12:83307408:GCAGCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAGCAG,NC_000004.12:83307408:GCAGCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAGCAGCAGCAG,NC_000004.12:83307408:GCAGCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAGCAGCAGCAGCAG,NC_000004.12:83307408:GCAGCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
Gene:: HPSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCAGCAGCAGCAGCAG=0./0 (ALFA)
GCA=0.11901/596 (1000Genomes)
GCA=0.125/5 (GENOME_DK)
GCA=0.25067/1123 (Estonian)
GCA=0.28056/280 (GoNL)
GCA=0.29667/178 (NorthernSweden)
HGVS:: NC_000004.12:g.83307410CAG[4], NC_000004.12:g.83307410CAG[5], NC_000004.12:g.83307410CAG[6], NC_000004.12:g.83307410CAG[8], NC_000004.12:g.83307410CAG[9], NC_000004.12:g.83307410CAG[10], NC_000004.11:g.84228563CAG[4], NC_000004.11:g.84228563CAG[5], NC_000004.11:g.84228563CAG[6], NC_000004.11:g.84228563CAG[8], NC_000004.11:g.84228563CAG[9], NC_000004.11:g.84228563CAG[10], NG_028037.1:g.32725TGC[4], NG_028037.1:g.32725TGC[5], NG_028037.1:g.32725TGC[6], NG_028037.1:g.32725TGC[8], NG_028037.1:g.32725TGC[9], NG_028037.1:g.32725TGC[10]

Select item 14915685522.

rs1491568552 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:83322788 (GRCh38)
4:84243942 (GRCh37)
Canonical SPDI:: NC_000004.12:83322788::G
Gene:: HPSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00402/59 (TOMMO)
G=0.01282/6 (NorthernSweden)
G=0.04983/2517 (GnomAD)
HGVS:: NC_000004.12:g.83322788_83322789insG, NC_000004.11:g.84243941_84243942insG, NG_028037.1:g.17365_17366insC

Select item 14914974953.

rs1491497495 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 4:83296773 (GRCh38)
4:84217926 (GRCh37)
Canonical SPDI:: NC_000004.12:83296772:TT:
Gene:: HPSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.83296773_83296774del, NC_000004.11:g.84217926_84217927del, NG_028037.1:g.43380_43381del

Select item 14914622134.

rs1491462213 [Homo sapiens]

Variant type:: INS
Alleles:: ->GA [Show Flanks]
Chromosome:: 4:83311781 (GRCh38)
4:84232935 (GRCh37)
Canonical SPDI:: NC_000004.12:83311781::GA
Gene:: HPSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GA=0.000582/8 (ALFA)
GA=0.000069/8 (GnomAD)
HGVS:: NC_000004.12:g.83311781_83311782insGA, NC_000004.11:g.84232934_84232935insGA, NG_028037.1:g.28372_28373insTC

Select item 14913607995.

rs1491360799 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:83299363 (GRCh38)
4:84220516 (GRCh37)
Canonical SPDI:: NC_000004.12:83299362:CA:
Gene:: HPSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.83299363_83299364del, NC_000004.11:g.84220516_84220517del, NG_028037.1:g.40790_40791del

Select item 14913517976.

rs1491351797 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 4:83296773 (GRCh38)
4:84217927 (GRCh37)
Canonical SPDI:: NC_000004.12:83296773:TATA:TATATA
Gene:: HPSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATA=0./0 (ALFA)
TA=0.000004/1 (TOPMED)
TA=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.83296774TA[3], NC_000004.11:g.84217927TA[3], NG_028037.1:g.43377TA[3]

Select item 14913462627.

rs1491346262 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:83311781 (GRCh38)
4:84232934 (GRCh37)
Canonical SPDI:: NC_000004.12:83311780:GA:
Gene:: HPSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.83311781_83311782del, NC_000004.11:g.84232934_84232935del, NG_028037.1:g.28372_28373del

Select item 14913252858.

rs1491325285 has merged into rs58369674 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:83320038 (GRCh38)
4:84241191 (GRCh37)
Canonical SPDI:: NC_000004.12:83320028:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:83320028:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:83320028:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:83320028:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:83320028:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:83320028:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:83320028:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:83320028:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83320028:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83320028:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83320028:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83320028:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HPSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
AAA=0.1873/938 (1000Genomes)
HGVS:: NC_000004.12:g.83320038_83320050del, NC_000004.12:g.83320043_83320050del, NC_000004.12:g.83320045_83320050del, NC_000004.12:g.83320046_83320050del, NC_000004.12:g.83320047_83320050del, NC_000004.12:g.83320048_83320050del, NC_000004.12:g.83320049_83320050del, NC_000004.12:g.83320050del, NC_000004.12:g.83320050dup, NC_000004.12:g.83320049_83320050dup, NC_000004.12:g.83320048_83320050dup, NC_000004.12:g.83320047_83320050dup, NC_000004.11:g.84241191_84241203del, NC_000004.11:g.84241196_84241203del, NC_000004.11:g.84241198_84241203del, NC_000004.11:g.84241199_84241203del, NC_000004.11:g.84241200_84241203del, NC_000004.11:g.84241201_84241203del, NC_000004.11:g.84241202_84241203del, NC_000004.11:g.84241203del, NC_000004.11:g.84241203dup, NC_000004.11:g.84241202_84241203dup, NC_000004.11:g.84241201_84241203dup, NC_000004.11:g.84241200_84241203dup, NG_028037.1:g.20113_20125del, NG_028037.1:g.20118_20125del, NG_028037.1:g.20120_20125del, NG_028037.1:g.20121_20125del, NG_028037.1:g.20122_20125del, NG_028037.1:g.20123_20125del, NG_028037.1:g.20124_20125del, NG_028037.1:g.20125del, NG_028037.1:g.20125dup, NG_028037.1:g.20124_20125dup, NG_028037.1:g.20123_20125dup, NG_028037.1:g.20122_20125dup

Select item 14913013139.

rs1491301313 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:83320028 (GRCh38)
4:84241181 (GRCh37)
Canonical SPDI:: NC_000004.12:83320027:TA:
Gene:: HPSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
HGVS:: NC_000004.12:g.83320028_83320029del, NC_000004.11:g.84241181_84241182del, NG_028037.1:g.20125_20126del

Select item 149128624810.

rs1491286248 has merged into rs757562812 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:83299373 (GRCh38)
4:84220526 (GRCh37)
Canonical SPDI:: NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83299363:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HPSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000004.12:g.83299373_83299389del, NC_000004.12:g.83299375_83299389del, NC_000004.12:g.83299376_83299389del, NC_000004.12:g.83299377_83299389del, NC_000004.12:g.83299378_83299389del, NC_000004.12:g.83299379_83299389del, NC_000004.12:g.83299380_83299389del, NC_000004.12:g.83299381_83299389del, NC_000004.12:g.83299382_83299389del, NC_000004.12:g.83299383_83299389del, NC_000004.12:g.83299384_83299389del, NC_000004.12:g.83299385_83299389del, NC_000004.12:g.83299386_83299389del, NC_000004.12:g.83299387_83299389del, NC_000004.12:g.83299388_83299389del, NC_000004.12:g.83299389del, NC_000004.12:g.83299389dup, NC_000004.12:g.83299388_83299389dup, NC_000004.12:g.83299387_83299389dup, NC_000004.12:g.83299386_83299389dup, NC_000004.12:g.83299385_83299389dup, NC_000004.12:g.83299384_83299389dup, NC_000004.12:g.83299381_83299389dup, NC_000004.11:g.84220526_84220542del, NC_000004.11:g.84220528_84220542del, NC_000004.11:g.84220529_84220542del, NC_000004.11:g.84220530_84220542del, NC_000004.11:g.84220531_84220542del, NC_000004.11:g.84220532_84220542del, NC_000004.11:g.84220533_84220542del, NC_000004.11:g.84220534_84220542del, NC_000004.11:g.84220535_84220542del, NC_000004.11:g.84220536_84220542del, NC_000004.11:g.84220537_84220542del, NC_000004.11:g.84220538_84220542del, NC_000004.11:g.84220539_84220542del, NC_000004.11:g.84220540_84220542del, NC_000004.11:g.84220541_84220542del, NC_000004.11:g.84220542del, NC_000004.11:g.84220542dup, NC_000004.11:g.84220541_84220542dup, NC_000004.11:g.84220540_84220542dup, NC_000004.11:g.84220539_84220542dup, NC_000004.11:g.84220538_84220542dup, NC_000004.11:g.84220537_84220542dup, NC_000004.11:g.84220534_84220542dup, NG_028037.1:g.40774_40790del, NG_028037.1:g.40776_40790del, NG_028037.1:g.40777_40790del, NG_028037.1:g.40778_40790del, NG_028037.1:g.40779_40790del, NG_028037.1:g.40780_40790del, NG_028037.1:g.40781_40790del, NG_028037.1:g.40782_40790del, NG_028037.1:g.40783_40790del, NG_028037.1:g.40784_40790del, NG_028037.1:g.40785_40790del, NG_028037.1:g.40786_40790del, NG_028037.1:g.40787_40790del, NG_028037.1:g.40788_40790del, NG_028037.1:g.40789_40790del, NG_028037.1:g.40790del, NG_028037.1:g.40790dup, NG_028037.1:g.40789_40790dup, NG_028037.1:g.40788_40790dup, NG_028037.1:g.40787_40790dup, NG_028037.1:g.40786_40790dup, NG_028037.1:g.40785_40790dup, NG_028037.1:g.40782_40790dup

Select item 149125855111.

rs1491258551 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 4:83324114 (GRCh38)
4:84245268 (GRCh37)
Canonical SPDI:: NC_000004.12:83324114:T:TCT
Gene:: HPSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
HGVS:: NC_000004.12:g.83324115_83324116insCT, NC_000004.11:g.84245268_84245269insCT, NG_028037.1:g.16039_16040insGA

Select item 149125803512.

rs1491258035 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:83322838 (GRCh38)
4:84243992 (GRCh37)
Canonical SPDI:: NC_000004.12:83322838::G
Gene:: HPSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00044/7 (TOMMO)
HGVS:: NC_000004.12:g.83322838_83322839insG, NC_000004.11:g.84243991_84243992insG, NG_028037.1:g.17315_17316insC

Select item 149118081413.

rs1491180814 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 4:83322839 (GRCh38)
4:84243992 (GRCh37)
Canonical SPDI:: NC_000004.12:83322837:TTT:T
Gene:: HPSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001602/19 (ALFA)
-=0.000804/13 (TOMMO)
-=0.003951/488 (GnomAD)
HGVS:: NC_000004.12:g.83322839_83322840del, NC_000004.11:g.84243992_84243993del, NG_028037.1:g.17315_17316del

Select item 149113770714.

rs1491137707 has merged into rs1553920741 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:83322789 (GRCh38)
4:84243942 (GRCh37)
Canonical SPDI:: NC_000004.12:83322787:TTT:T,NC_000004.12:83322787:TTT:TTTTT,NC_000004.12:83322787:TTT:TTTTTTT,NC_000004.12:83322787:TTT:TTTTTTTT,NC_000004.12:83322787:TTT:TTTTTTTTTTTTTTTTT
Gene:: HPSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000004.12:g.83322789_83322790del, NC_000004.12:g.83322789_83322790dup, NC_000004.12:g.83322790_83322791insTTTT, NC_000004.12:g.83322790_83322791insTTTTT, NC_000004.12:g.83322790_83322791insTTTTTTTTTTTTTT, NC_000004.11:g.84243942_84243943del, NC_000004.11:g.84243942_84243943dup, NC_000004.11:g.84243943_84243944insTTTT, NC_000004.11:g.84243943_84243944insTTTTT, NC_000004.11:g.84243943_84243944insTTTTTTTTTTTTTT, NG_028037.1:g.17365_17366del, NG_028037.1:g.17365_17366dup, NG_028037.1:g.17366_17367insAAAA, NG_028037.1:g.17366_17367insAAAAA, NG_028037.1:g.17366_17367insAAAAAAAAAAAAAA

Select item 149097697115.

rs1490976971 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:83310512 (GRCh38)
4:84231666 (GRCh37)
Canonical SPDI:: NC_000004.12:83310512:TTTTTTT:TTTTTTTT
Gene:: HPSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000004.12:g.83310519dup, NC_000004.11:g.84231672dup, NG_028037.1:g.29641dup

Select item 149096704316.

rs1490967043 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>A
Chromosome:: no mapping
Canonical SPDI:

Select item 149075179117.

rs1490751791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:83302879 (GRCh38)
4:84224032 (GRCh37)
Canonical SPDI:: NC_000004.12:83302878:G:A
Gene:: HPSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.83302879G>A, NC_000004.11:g.84224032G>A, NG_028037.1:g.37275C>T

Select item 149072603218.

rs1490726032 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:83317404 (GRCh38)
4:84238557 (GRCh37)
Canonical SPDI:: NC_000004.12:83317403:A:G
Gene:: HPSE (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)
HGVS:: NC_000004.12:g.83317404A>G, NC_000004.11:g.84238557A>G, NG_028037.1:g.22750T>C

Select item 149061266119.

rs1490612661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:83319784 (GRCh38)
4:84240937 (GRCh37)
Canonical SPDI:: NC_000004.12:83319783:G:C
Gene:: HPSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.83319784G>C, NC_000004.11:g.84240937G>C, NG_028037.1:g.20370C>G

Select item 149055332320.

rs1490553323 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 4:83318892 (GRCh38)
4:84240045 (GRCh37)
Canonical SPDI:: NC_000004.12:83318891:GG:G
Gene:: HPSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.83318893del, NC_000004.11:g.84240046del, NG_028037.1:g.21262del

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