SNP Links for Gene (Select 5245) - SNP

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Select item 14914983041.

rs1491498304 has merged into rs1220133632 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 17:49413523 (GRCh38)
17:47490885 (GRCh37)
Canonical SPDI:: NC_000017.11:49413512:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:49413512:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:49413512:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:49413512:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:49413512:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:49413512:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:49413512:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: PHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.00011/3 (TOMMO)
T=0.01925/35 (Korea1K)
HGVS:: NC_000017.11:g.49413523_49413525del, NC_000017.11:g.49413524_49413525del, NC_000017.11:g.49413525del, NC_000017.11:g.49413525dup, NC_000017.11:g.49413524_49413525dup, NC_000017.11:g.49413523_49413525dup, NC_000017.11:g.49413520_49413525dup, NC_000017.10:g.47490885_47490887del, NC_000017.10:g.47490886_47490887del, NC_000017.10:g.47490887del, NC_000017.10:g.47490887dup, NC_000017.10:g.47490886_47490887dup, NC_000017.10:g.47490885_47490887dup, NC_000017.10:g.47490882_47490887dup, NG_023046.1:g.6366_6368del, NG_023046.1:g.6367_6368del, NG_023046.1:g.6368del, NG_023046.1:g.6368dup, NG_023046.1:g.6367_6368dup, NG_023046.1:g.6366_6368dup, NG_023046.1:g.6363_6368dup

Select item 14914779712.

rs1491477971 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:49416360 (GRCh38)
17:47493722 (GRCh37)
Canonical SPDI:: NC_000017.11:49416359:CA:
Gene:: PHB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00363/43 (ALFA)
HGVS:: NC_000017.11:g.49416360_49416361del, NC_000017.10:g.47493722_47493723del, NG_023046.1:g.3520_3521del

Select item 14914651923.

rs1491465192 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:49416361 (GRCh38)
17:47493724 (GRCh37)
Canonical SPDI:: NC_000017.11:49416361::C
Gene:: PHB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49416361_49416362insC, NC_000017.10:g.47493723_47493724insC, NG_023046.1:g.3519_3520insG

Select item 14914196744.

rs1491419674 has merged into rs34306342 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:49416373 (GRCh38)
17:47493735 (GRCh37)
Canonical SPDI:: NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PHB1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.49416373_49416385del, NC_000017.11:g.49416374_49416385del, NC_000017.11:g.49416375_49416385del, NC_000017.11:g.49416376_49416385del, NC_000017.11:g.49416377_49416385del, NC_000017.11:g.49416378_49416385del, NC_000017.11:g.49416379_49416385del, NC_000017.11:g.49416380_49416385del, NC_000017.11:g.49416381_49416385del, NC_000017.11:g.49416382_49416385del, NC_000017.11:g.49416383_49416385del, NC_000017.11:g.49416384_49416385del, NC_000017.11:g.49416385del, NC_000017.11:g.49416385dup, NC_000017.11:g.49416384_49416385dup, NC_000017.11:g.49416383_49416385dup, NC_000017.11:g.49416382_49416385dup, NC_000017.11:g.49416380_49416385dup, NC_000017.11:g.49416378_49416385dup, NC_000017.10:g.47493735_47493747del, NC_000017.10:g.47493736_47493747del, NC_000017.10:g.47493737_47493747del, NC_000017.10:g.47493738_47493747del, NC_000017.10:g.47493739_47493747del, NC_000017.10:g.47493740_47493747del, NC_000017.10:g.47493741_47493747del, NC_000017.10:g.47493742_47493747del, NC_000017.10:g.47493743_47493747del, NC_000017.10:g.47493744_47493747del, NC_000017.10:g.47493745_47493747del, NC_000017.10:g.47493746_47493747del, NC_000017.10:g.47493747del, NC_000017.10:g.47493747dup, NC_000017.10:g.47493746_47493747dup, NC_000017.10:g.47493745_47493747dup, NC_000017.10:g.47493744_47493747dup, NC_000017.10:g.47493742_47493747dup, NC_000017.10:g.47493740_47493747dup, NG_023046.1:g.3508_3520del, NG_023046.1:g.3509_3520del, NG_023046.1:g.3510_3520del, NG_023046.1:g.3511_3520del, NG_023046.1:g.3512_3520del, NG_023046.1:g.3513_3520del, NG_023046.1:g.3514_3520del, NG_023046.1:g.3515_3520del, NG_023046.1:g.3516_3520del, NG_023046.1:g.3517_3520del, NG_023046.1:g.3518_3520del, NG_023046.1:g.3519_3520del, NG_023046.1:g.3520del, NG_023046.1:g.3520dup, NG_023046.1:g.3519_3520dup, NG_023046.1:g.3518_3520dup, NG_023046.1:g.3517_3520dup, NG_023046.1:g.3515_3520dup, NG_023046.1:g.3513_3520dup

Select item 14913574665.

rs1491357466 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:49415102 (GRCh38)
17:47492465 (GRCh37)
Canonical SPDI:: NC_000017.11:49415102:GGGGG:GGGGGG
Gene:: PHB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49415107dup, NC_000017.10:g.47492469dup, NG_023046.1:g.4778dup

Select item 14912104716.

rs1491210471 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:49415102 (GRCh38)
17:47492464 (GRCh37)
Canonical SPDI:: NC_000017.11:49415101:TG:
Gene:: PHB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49415102_49415103del, NC_000017.10:g.47492464_47492465del, NG_023046.1:g.4778_4779del

Select item 14911978027.

rs1491197802 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:49409542 (GRCh38)
17:47486905 (GRCh37)
Canonical SPDI:: NC_000017.11:49409542:G:GG
Gene:: PHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000027/3 (GnomAD)
HGVS:: NC_000017.11:g.49409543dup, NC_000017.10:g.47486905dup, NG_023046.1:g.10338dup

Select item 14911717838.

rs1491171783 has merged into rs34306342 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:49416373 (GRCh38)
17:47493735 (GRCh37)
Canonical SPDI:: NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:49416360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PHB1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.49416373_49416385del, NC_000017.11:g.49416374_49416385del, NC_000017.11:g.49416375_49416385del, NC_000017.11:g.49416376_49416385del, NC_000017.11:g.49416377_49416385del, NC_000017.11:g.49416378_49416385del, NC_000017.11:g.49416379_49416385del, NC_000017.11:g.49416380_49416385del, NC_000017.11:g.49416381_49416385del, NC_000017.11:g.49416382_49416385del, NC_000017.11:g.49416383_49416385del, NC_000017.11:g.49416384_49416385del, NC_000017.11:g.49416385del, NC_000017.11:g.49416385dup, NC_000017.11:g.49416384_49416385dup, NC_000017.11:g.49416383_49416385dup, NC_000017.11:g.49416382_49416385dup, NC_000017.11:g.49416380_49416385dup, NC_000017.11:g.49416378_49416385dup, NC_000017.10:g.47493735_47493747del, NC_000017.10:g.47493736_47493747del, NC_000017.10:g.47493737_47493747del, NC_000017.10:g.47493738_47493747del, NC_000017.10:g.47493739_47493747del, NC_000017.10:g.47493740_47493747del, NC_000017.10:g.47493741_47493747del, NC_000017.10:g.47493742_47493747del, NC_000017.10:g.47493743_47493747del, NC_000017.10:g.47493744_47493747del, NC_000017.10:g.47493745_47493747del, NC_000017.10:g.47493746_47493747del, NC_000017.10:g.47493747del, NC_000017.10:g.47493747dup, NC_000017.10:g.47493746_47493747dup, NC_000017.10:g.47493745_47493747dup, NC_000017.10:g.47493744_47493747dup, NC_000017.10:g.47493742_47493747dup, NC_000017.10:g.47493740_47493747dup, NG_023046.1:g.3508_3520del, NG_023046.1:g.3509_3520del, NG_023046.1:g.3510_3520del, NG_023046.1:g.3511_3520del, NG_023046.1:g.3512_3520del, NG_023046.1:g.3513_3520del, NG_023046.1:g.3514_3520del, NG_023046.1:g.3515_3520del, NG_023046.1:g.3516_3520del, NG_023046.1:g.3517_3520del, NG_023046.1:g.3518_3520del, NG_023046.1:g.3519_3520del, NG_023046.1:g.3520del, NG_023046.1:g.3520dup, NG_023046.1:g.3519_3520dup, NG_023046.1:g.3518_3520dup, NG_023046.1:g.3517_3520dup, NG_023046.1:g.3515_3520dup, NG_023046.1:g.3513_3520dup

Select item 14911669299.

rs1491166929 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:49409543 (GRCh38)
17:47486905 (GRCh37)
Canonical SPDI:: NC_000017.11:49409541:TGT:T
Gene:: PHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.49409543_49409544del, NC_000017.10:g.47486905_47486906del, NG_023046.1:g.10338_10339del

Select item 149109468410.

rs1491094684 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:49413512 (GRCh38)
17:47490874 (GRCh37)
Canonical SPDI:: NC_000017.11:49413511:CT:
Gene:: PHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00027/26 (GnomAD)
HGVS:: NC_000017.11:g.49413512_49413513del, NC_000017.10:g.47490874_47490875del, NG_023046.1:g.6368_6369del

Select item 149091297411.

rs1490912974 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49414266 (GRCh38)
17:47491628 (GRCh37)
Canonical SPDI:: NC_000017.11:49414265:A:G
Gene:: PHB1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49414266A>G, NC_000017.10:g.47491628A>G, NG_023046.1:g.5615T>C, NM_001281715.2:c.-52T>C, NM_001281715.1:c.-52T>C, XM_017024763.2:c.-52T>C, XM_017024763.1:c.-52T>C

Select item 149089781112.

rs1490897811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49412307 (GRCh38)
17:47489669 (GRCh37)
Canonical SPDI:: NC_000017.11:49412306:G:A
Gene:: PHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.49412307G>A, NC_000017.10:g.47489669G>A, NG_023046.1:g.7574C>T

Select item 149045317013.

rs1490453170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:49415705 (GRCh38)
17:47493067 (GRCh37)
Canonical SPDI:: NC_000017.11:49415704:T:G
Gene:: PHB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.49415705T>G, NC_000017.10:g.47493067T>G, NG_023046.1:g.4176A>C

Select item 149040684814.

rs1490406848 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:49413515 (GRCh38)
17:47490878 (GRCh37)
Canonical SPDI:: NC_000017.11:49413515::C
Gene:: PHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.49413515_49413516insC, NC_000017.10:g.47490877_47490878insC, NG_023046.1:g.6365_6366insG

Select item 149032478915.

rs1490324789 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49407300 (GRCh38)
17:47484662 (GRCh37)
Canonical SPDI:: NC_000017.11:49407299:T:C
Gene:: PHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.49407300T>C, NC_000017.10:g.47484662T>C, NG_023046.1:g.12581A>G

Select item 148991733616.

rs1489917336 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49414803 (GRCh38)
17:47492165 (GRCh37)
Canonical SPDI:: NC_000017.11:49414802:A:G
Gene:: PHB1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49414803A>G, NC_000017.10:g.47492165A>G, NG_023046.1:g.5078T>C, NM_001281496.2:c.-91T>C, NM_001281496.1:c.-91T>C, XM_017024763.2:c.-183T>C, XM_017024763.1:c.-183T>C

Select item 148975468017.

rs1489754680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:49411651 (GRCh38)
17:47489013 (GRCh37)
Canonical SPDI:: NC_000017.11:49411650:T:A
Gene:: PHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.49411651T>A, NC_000017.10:g.47489013T>A, NG_023046.1:g.8230A>T

Select item 148915381918.

rs1489153819 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49416506 (GRCh38)
17:47493868 (GRCh37)
Canonical SPDI:: NC_000017.11:49416505:A:G
Gene:: PHB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49416506A>G, NC_000017.10:g.47493868A>G, NG_023046.1:g.3375T>C

Select item 148906312519.

rs1489063125 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49415775 (GRCh38)
17:47493137 (GRCh37)
Canonical SPDI:: NC_000017.11:49415774:G:A
Gene:: PHB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.49415775G>A, NC_000017.10:g.47493137G>A, NG_023046.1:g.4106C>T

Select item 148887961020.

rs1488879610 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49406309 (GRCh38)
17:47483671 (GRCh37)
Canonical SPDI:: NC_000017.11:49406308:A:G
Gene:: PHB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49406309A>G, NC_000017.10:g.47483671A>G, NG_023046.1:g.13572T>C

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