SNP Links for Gene (Select 54821) - SNP

Links from Gene

Items: 1 to 20 of 5442

<< First< Prev

Page of 273

Next >Last >>

Select item 14915814191.

rs1491581419 has merged into rs758259884 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: X:72222611 (GRCh38)
X:71442461 (GRCh37)
Canonical SPDI:: NC_000023.11:72222595:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:72222595:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:72222595:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:72222595:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:72222595:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:72222595:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:72222595:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:72222595:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:72222595:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:72222595:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.45801/1729 (1000Genomes)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000023.11:g.72222611_72222616del, NC_000023.11:g.72222613_72222616del, NC_000023.11:g.72222614_72222616del, NC_000023.11:g.72222615_72222616del, NC_000023.11:g.72222616del, NC_000023.11:g.72222616dup, NC_000023.11:g.72222615_72222616dup, NC_000023.11:g.72222614_72222616dup, NC_000023.11:g.72222613_72222616dup, NC_000023.11:g.72222612_72222616dup, NC_000023.10:g.71442461_71442466del, NC_000023.10:g.71442463_71442466del, NC_000023.10:g.71442464_71442466del, NC_000023.10:g.71442465_71442466del, NC_000023.10:g.71442466del, NC_000023.10:g.71442466dup, NC_000023.10:g.71442465_71442466dup, NC_000023.10:g.71442464_71442466dup, NC_000023.10:g.71442463_71442466dup, NC_000023.10:g.71442462_71442466dup, NG_016328.1:g.45936_45941del, NG_016328.1:g.45938_45941del, NG_016328.1:g.45939_45941del, NG_016328.1:g.45940_45941del, NG_016328.1:g.45941del, NG_016328.1:g.45941dup, NG_016328.1:g.45940_45941dup, NG_016328.1:g.45939_45941dup, NG_016328.1:g.45938_45941dup, NG_016328.1:g.45937_45941dup, NG_054897.1:g.21408_21413del, NG_054897.1:g.21410_21413del, NG_054897.1:g.21411_21413del, NG_054897.1:g.21412_21413del, NG_054897.1:g.21413del, NG_054897.1:g.21413dup, NG_054897.1:g.21412_21413dup, NG_054897.1:g.21411_21413dup, NG_054897.1:g.21410_21413dup, NG_054897.1:g.21409_21413dup

Select item 14908555572.

rs1490855557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:72218425 (GRCh38)
X:71438275 (GRCh37)
Canonical SPDI:: NC_000023.11:72218424:G:T
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.72218425G>T, NC_000023.10:g.71438275G>T, NG_016328.1:g.41750G>T, NG_054897.1:g.25584C>A

Select item 14907207103.

rs1490720710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:72230122 (GRCh38)
X:71449972 (GRCh37)
Canonical SPDI:: NC_000023.11:72230121:C:G
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.72230122C>G, NC_000023.10:g.71449972C>G, NG_016328.1:g.53447C>G, NG_054897.1:g.13887G>C

Select item 14905535844.

rs1490553584 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: X:72232299 (GRCh38)
X:71452149 (GRCh37)
Canonical SPDI:: NC_000023.11:72232297:AGA:A
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00029/6 (TOMMO)
HGVS:: NC_000023.11:g.72232299_72232300del, NC_000023.10:g.71452149_71452150del, NG_016328.1:g.55624_55625del, NG_054897.1:g.11710_11711del

Select item 14904409425.

rs1490440942 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>- [Show Flanks]
Chromosome:: X:72221185 (GRCh38)
X:71441035 (GRCh37)
Canonical SPDI:: NC_000023.11:72221181:TCTCTCT:TCT
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.72221183CT[1], NC_000023.10:g.71441033CT[1], NG_016328.1:g.44508CT[1], NG_054897.1:g.22822GA[1]

Select item 14902935956.

rs1490293595 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: X:72220250 (GRCh38)
X:71440101 (GRCh37)
Canonical SPDI:: NC_000023.11:72220250::C
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.72220250_72220251insC, NC_000023.10:g.71440100_71440101insC, NG_016328.1:g.43575_43576insC, NG_054897.1:g.23758_23759insG

Select item 14896202637.

rs1489620263 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:72232703 (GRCh38)
X:71452553 (GRCh37)
Canonical SPDI:: NC_000023.11:72232702:A:G
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.72232703A>G, NC_000023.10:g.71452553A>G, NG_016328.1:g.56028A>G, NG_054897.1:g.11306T>C

Select item 14892923638.

rs1489292363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:72233370 (GRCh38)
X:71453220 (GRCh37)
Canonical SPDI:: NC_000023.11:72233369:G:A,NC_000023.11:72233369:G:C
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.72233370G>A, NC_000023.11:g.72233370G>C, NC_000023.10:g.71453220G>A, NC_000023.10:g.71453220G>C, NG_016328.1:g.56695G>A, NG_016328.1:g.56695G>C, NG_054897.1:g.10639C>T, NG_054897.1:g.10639C>G

Select item 14889456769.

rs1488945676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:72229197 (GRCh38)
X:71449047 (GRCh37)
Canonical SPDI:: NC_000023.11:72229196:G:A
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.72229197G>A, NC_000023.10:g.71449047G>A, NG_016328.1:g.52522G>A, NG_054897.1:g.14812C>T

Select item 148889549610.

rs1488895496 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:72221902 (GRCh38)
X:71441752 (GRCh37)
Canonical SPDI:: NC_000023.11:72221901:T:G
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.72221902T>G, NC_000023.10:g.71441752T>G, NG_016328.1:g.45227T>G, NG_054897.1:g.22107A>C

Select item 148857928011.

rs1488579280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:72207440 (GRCh38)
X:71427290 (GRCh37)
Canonical SPDI:: NC_000023.11:72207439:C:G
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.72207440C>G, NC_000023.10:g.71427290C>G, NG_016328.1:g.30765C>G, NG_054897.1:g.36569G>C, NM_017669.4:c.1327G>C, NM_017669.3:c.1327G>C, NM_017669.2:c.1327G>C, NM_001009954.3:c.958G>C, NM_001009954.2:c.958G>C, NM_001009954.1:c.958G>C, NP_060139.2:p.Asp443His, NP_001009954.1:p.Asp320His

Select item 148841481012.

rs1488414810 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:72232746 (GRCh38)
X:71452596 (GRCh37)
Canonical SPDI:: NC_000023.11:72232745:G:A
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.72232746G>A, NC_000023.10:g.71452596G>A, NG_016328.1:g.56071G>A, NG_054897.1:g.11263C>T

Select item 148809060813.

rs1488090608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: X:72212747 (GRCh38)
X:71432597 (GRCh37)
Canonical SPDI:: NC_000023.11:72212746:C:A,NC_000023.11:72212746:C:G
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.72212747C>A, NC_000023.11:g.72212747C>G, NC_000023.10:g.71432597C>A, NC_000023.10:g.71432597C>G, NG_016328.1:g.36072C>A, NG_016328.1:g.36072C>G, NG_054897.1:g.31262G>T, NG_054897.1:g.31262G>C

Select item 148804315214.

rs1488043152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:72235004 (GRCh38)
X:71454854 (GRCh37)
Canonical SPDI:: NC_000023.11:72235003:G:T
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.72235004G>T, NC_000023.10:g.71454854G>T, NG_016328.1:g.58329G>T, NG_054897.1:g.9005C>A

Select item 148803337015.

rs1488033370 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:72236526 (GRCh38)
X:71456376 (GRCh37)
Canonical SPDI:: NC_000023.11:72236525:C:G
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.72236526C>G, NC_000023.10:g.71456376C>G, NG_016328.1:g.59851C>G, NG_054897.1:g.7483G>C

Select item 148788954116.

rs1487889541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:72217792 (GRCh38)
X:71437642 (GRCh37)
Canonical SPDI:: NC_000023.11:72217791:T:G
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.72217792T>G, NC_000023.10:g.71437642T>G, NG_016328.1:g.41117T>G, NG_054897.1:g.26217A>C

Select item 148737092817.

rs1487370928 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:72212280 (GRCh38)
X:71432130 (GRCh37)
Canonical SPDI:: NC_000023.11:72212279:A:G
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.72212280A>G, NC_000023.10:g.71432130A>G, NG_016328.1:g.35605A>G, NG_054897.1:g.31729T>C

Select item 148712181518.

rs1487121815 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:72204586 (GRCh38)
X:71424436 (GRCh37)
Canonical SPDI:: NC_000023.11:72204585:A:G
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.72204586A>G, NC_000023.10:g.71424436A>G, NG_016328.1:g.27911A>G, NG_054897.1:g.39423T>C

Select item 148711672919.

rs1487116729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:72224799 (GRCh38)
X:71444649 (GRCh37)
Canonical SPDI:: NC_000023.11:72224798:T:C
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.72224799T>C, NC_000023.10:g.71444649T>C, NG_016328.1:g.48124T>C, NG_054897.1:g.19210A>G

Select item 148709172220.

rs1487091722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:72207341 (GRCh38)
X:71427191 (GRCh37)
Canonical SPDI:: NC_000023.11:72207340:C:T
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.72207341C>T, NC_000023.10:g.71427191C>T, NG_016328.1:g.30666C>T, NG_054897.1:g.36668G>A, NM_017669.4:c.1426G>A, NM_017669.3:c.1426G>A, NM_017669.2:c.1426G>A, NM_001009954.3:c.1057G>A, NM_001009954.2:c.1057G>A, NM_001009954.1:c.1057G>A, NP_060139.2:p.Gly476Arg, NP_001009954.1:p.Gly353Arg

<< First< Prev

Page of 273

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 5442

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity