SNP Links for Gene (Select 64175) - SNP

Links from Gene

Items: 1 to 20 of 5841

<< First< Prev

Page of 293

Next >Last >>

Select item 14915602581.

rs1491560258 has merged into rs769981372 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:42764433 (GRCh38)
1:43230104 (GRCh37)
Canonical SPDI:: NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42764423:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: P3H1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000404/107 (TOPMED)
HGVS:: NC_000001.11:g.42764433_42764444del, NC_000001.11:g.42764434_42764444del, NC_000001.11:g.42764435_42764444del, NC_000001.11:g.42764438_42764444del, NC_000001.11:g.42764440_42764444del, NC_000001.11:g.42764441_42764444del, NC_000001.11:g.42764442_42764444del, NC_000001.11:g.42764443_42764444del, NC_000001.11:g.42764444del, NC_000001.11:g.42764444dup, NC_000001.11:g.42764443_42764444dup, NC_000001.11:g.42764442_42764444dup, NC_000001.11:g.42764441_42764444dup, NC_000001.11:g.42764440_42764444dup, NC_000001.11:g.42764439_42764444dup, NC_000001.11:g.42764438_42764444dup, NC_000001.11:g.42764437_42764444dup, NC_000001.11:g.42764436_42764444dup, NC_000001.11:g.42764435_42764444dup, NC_000001.11:g.42764432_42764444dup, NC_000001.11:g.42764430_42764444dup, NC_000001.11:g.42764426_42764444dup, NC_000001.10:g.43230104_43230115del, NC_000001.10:g.43230105_43230115del, NC_000001.10:g.43230106_43230115del, NC_000001.10:g.43230109_43230115del, NC_000001.10:g.43230111_43230115del, NC_000001.10:g.43230112_43230115del, NC_000001.10:g.43230113_43230115del, NC_000001.10:g.43230114_43230115del, NC_000001.10:g.43230115del, NC_000001.10:g.43230115dup, NC_000001.10:g.43230114_43230115dup, NC_000001.10:g.43230113_43230115dup, NC_000001.10:g.43230112_43230115dup, NC_000001.10:g.43230111_43230115dup, NC_000001.10:g.43230110_43230115dup, NC_000001.10:g.43230109_43230115dup, NC_000001.10:g.43230108_43230115dup, NC_000001.10:g.43230107_43230115dup, NC_000001.10:g.43230106_43230115dup, NC_000001.10:g.43230103_43230115dup, NC_000001.10:g.43230101_43230115dup, NC_000001.10:g.43230097_43230115dup, NG_008123.1:g.7650_7661del, NG_008123.1:g.7651_7661del, NG_008123.1:g.7652_7661del, NG_008123.1:g.7655_7661del, NG_008123.1:g.7657_7661del, NG_008123.1:g.7658_7661del, NG_008123.1:g.7659_7661del, NG_008123.1:g.7660_7661del, NG_008123.1:g.7661del, NG_008123.1:g.7661dup, NG_008123.1:g.7660_7661dup, NG_008123.1:g.7659_7661dup, NG_008123.1:g.7658_7661dup, NG_008123.1:g.7657_7661dup, NG_008123.1:g.7656_7661dup, NG_008123.1:g.7655_7661dup, NG_008123.1:g.7654_7661dup, NG_008123.1:g.7653_7661dup, NG_008123.1:g.7652_7661dup, NG_008123.1:g.7649_7661dup, NG_008123.1:g.7647_7661dup, NG_008123.1:g.7643_7661dup

Select item 14914992772.

rs1491499277 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:42764424 (GRCh38)
1:43230096 (GRCh37)
Canonical SPDI:: NC_000001.11:42764424::T
Gene:: P3H1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.42764424_42764425insT, NC_000001.10:g.43230095_43230096insT, NG_008123.1:g.7660_7661insA

Select item 14914526743.

rs1491452674 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 1:42766022 (GRCh38)
1:43231694 (GRCh37)
Canonical SPDI:: NC_000001.11:42766022:A:AA,NC_000001.11:42766022:A:AAA
Gene:: P3H1 (Varview), C1orf50 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
AA=0.000323/39 (GnomAD)
HGVS:: NC_000001.11:g.42766023dup, NC_000001.11:g.42766023_42766024insAA, NC_000001.10:g.43231694dup, NC_000001.10:g.43231694_43231695insAA, NG_008123.1:g.6062dup, NG_008123.1:g.6062_6063insTT

Select item 14913391594.

rs1491339159 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:42763672 (GRCh38)
1:43229343 (GRCh37)
Canonical SPDI:: NC_000001.11:42763671:CA:
Gene:: P3H1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00065/16 (TOMMO)
HGVS:: NC_000001.11:g.42763672_42763673del, NC_000001.10:g.43229343_43229344del, NG_008123.1:g.8412_8413del

Select item 14912226095.

rs1491222609 has merged into rs1312359394 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG,GGG,GGGG,GGGGG,GGGGGG [Show Flanks]
Chromosome:: 1:42750651 (GRCh38)
1:43216322 (GRCh37)
Canonical SPDI:: NC_000001.11:42750650:GGGGGGGG:GGGGGGG,NC_000001.11:42750650:GGGGGGGG:GGGGGGGGG,NC_000001.11:42750650:GGGGGGGG:GGGGGGGGGG,NC_000001.11:42750650:GGGGGGGG:GGGGGGGGGGG,NC_000001.11:42750650:GGGGGGGG:GGGGGGGGGGGG,NC_000001.11:42750650:GGGGGGGG:GGGGGGGGGGGGG
Gene:: P3H1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
-=0.00005/1 (TOMMO)
HGVS:: NC_000001.11:g.42750658del, NC_000001.11:g.42750658dup, NC_000001.11:g.42750657_42750658dup, NC_000001.11:g.42750656_42750658dup, NC_000001.11:g.42750655_42750658dup, NC_000001.11:g.42750654_42750658dup, NC_000001.10:g.43216329del, NC_000001.10:g.43216329dup, NC_000001.10:g.43216328_43216329dup, NC_000001.10:g.43216327_43216329dup, NC_000001.10:g.43216326_43216329dup, NC_000001.10:g.43216325_43216329dup, NG_008123.1:g.21434del, NG_008123.1:g.21434dup, NG_008123.1:g.21433_21434dup, NG_008123.1:g.21432_21434dup, NG_008123.1:g.21431_21434dup, NG_008123.1:g.21430_21434dup

Select item 14912189376.

rs1491218937 has merged into rs747617057 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 1:42766014 (GRCh38)
1:43231685 (GRCh37)
Canonical SPDI:: NC_000001.11:42766007:CCCCCCCCC:CCCCCC,NC_000001.11:42766007:CCCCCCCCC:CCCCCCC,NC_000001.11:42766007:CCCCCCCCC:CCCCCCCC,NC_000001.11:42766007:CCCCCCCCC:CCCCCCCCCC,NC_000001.11:42766007:CCCCCCCCC:CCCCCCCCCCC,NC_000001.11:42766007:CCCCCCCCC:CCCCCCCCCCCC,NC_000001.11:42766007:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000001.11:42766007:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000001.11:42766007:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000001.11:42766007:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC
Gene:: P3H1 (Varview), C1orf50 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
-=0.13648/526 (ALSPAC)
-=0.25/149 (NorthernSweden)
-=0.25626/1084 (Estonian)
-=0.325/13 (GENOME_DK)
C=0.39891/730 (Korea1K)
HGVS:: NC_000001.11:g.42766014_42766016del, NC_000001.11:g.42766015_42766016del, NC_000001.11:g.42766016del, NC_000001.11:g.42766016dup, NC_000001.11:g.42766015_42766016dup, NC_000001.11:g.42766014_42766016dup, NC_000001.11:g.42766016_42766017insCCCCCCCCCCC, NC_000001.11:g.42766016_42766017insCCCCCCCCCCCC, NC_000001.11:g.42766016_42766017insCCCCCCCCCCCCC, NC_000001.11:g.42766016_42766017insCCCCCCCCCCCCCC, NC_000001.10:g.43231685_43231687del, NC_000001.10:g.43231686_43231687del, NC_000001.10:g.43231687del, NC_000001.10:g.43231687dup, NC_000001.10:g.43231686_43231687dup, NC_000001.10:g.43231685_43231687dup, NC_000001.10:g.43231687_43231688insCCCCCCCCCCC, NC_000001.10:g.43231687_43231688insCCCCCCCCCCCC, NC_000001.10:g.43231687_43231688insCCCCCCCCCCCCC, NC_000001.10:g.43231687_43231688insCCCCCCCCCCCCCC, NG_008123.1:g.6075_6077del, NG_008123.1:g.6076_6077del, NG_008123.1:g.6077del, NG_008123.1:g.6077dup, NG_008123.1:g.6076_6077dup, NG_008123.1:g.6075_6077dup, NG_008123.1:g.6077_6078insGGGGGGGGGGG, NG_008123.1:g.6077_6078insGGGGGGGGGGGG, NG_008123.1:g.6077_6078insGGGGGGGGGGGGG, NG_008123.1:g.6077_6078insGGGGGGGGGGGGGG

Select item 14911858137.

rs1491185813 has merged into rs766034061 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:42763683 (GRCh38)
1:43229354 (GRCh37)
Canonical SPDI:: NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: P3H1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.42763683_42763700del, NC_000001.11:g.42763684_42763700del, NC_000001.11:g.42763685_42763700del, NC_000001.11:g.42763686_42763700del, NC_000001.11:g.42763687_42763700del, NC_000001.11:g.42763688_42763700del, NC_000001.11:g.42763689_42763700del, NC_000001.11:g.42763690_42763700del, NC_000001.11:g.42763691_42763700del, NC_000001.11:g.42763692_42763700del, NC_000001.11:g.42763693_42763700del, NC_000001.11:g.42763694_42763700del, NC_000001.11:g.42763696_42763700del, NC_000001.11:g.42763697_42763700del, NC_000001.11:g.42763698_42763700del, NC_000001.11:g.42763699_42763700del, NC_000001.11:g.42763700del, NC_000001.11:g.42763700dup, NC_000001.11:g.42763699_42763700dup, NC_000001.11:g.42763698_42763700dup, NC_000001.11:g.42763697_42763700dup, NC_000001.11:g.42763696_42763700dup, NC_000001.11:g.42763695_42763700dup, NC_000001.11:g.42763694_42763700dup, NC_000001.11:g.42763691_42763700dup, NC_000001.11:g.42763690_42763700dup, NC_000001.11:g.42763688_42763700dup, NC_000001.11:g.42763673_42763700A[40]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.43229354_43229371del, NC_000001.10:g.43229355_43229371del, NC_000001.10:g.43229356_43229371del, NC_000001.10:g.43229357_43229371del, NC_000001.10:g.43229358_43229371del, NC_000001.10:g.43229359_43229371del, NC_000001.10:g.43229360_43229371del, NC_000001.10:g.43229361_43229371del, NC_000001.10:g.43229362_43229371del, NC_000001.10:g.43229363_43229371del, NC_000001.10:g.43229364_43229371del, NC_000001.10:g.43229365_43229371del, NC_000001.10:g.43229367_43229371del, NC_000001.10:g.43229368_43229371del, NC_000001.10:g.43229369_43229371del, NC_000001.10:g.43229370_43229371del, NC_000001.10:g.43229371del, NC_000001.10:g.43229371dup, NC_000001.10:g.43229370_43229371dup, NC_000001.10:g.43229369_43229371dup, NC_000001.10:g.43229368_43229371dup, NC_000001.10:g.43229367_43229371dup, NC_000001.10:g.43229366_43229371dup, NC_000001.10:g.43229365_43229371dup, NC_000001.10:g.43229362_43229371dup, NC_000001.10:g.43229361_43229371dup, NC_000001.10:g.43229359_43229371dup, NC_000001.10:g.43229344_43229371A[40]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_008123.1:g.8395_8412del, NG_008123.1:g.8396_8412del, NG_008123.1:g.8397_8412del, NG_008123.1:g.8398_8412del, NG_008123.1:g.8399_8412del, NG_008123.1:g.8400_8412del, NG_008123.1:g.8401_8412del, NG_008123.1:g.8402_8412del, NG_008123.1:g.8403_8412del, NG_008123.1:g.8404_8412del, NG_008123.1:g.8405_8412del, NG_008123.1:g.8406_8412del, NG_008123.1:g.8408_8412del, NG_008123.1:g.8409_8412del, NG_008123.1:g.8410_8412del, NG_008123.1:g.8411_8412del, NG_008123.1:g.8412del, NG_008123.1:g.8412dup, NG_008123.1:g.8411_8412dup, NG_008123.1:g.8410_8412dup, NG_008123.1:g.8409_8412dup, NG_008123.1:g.8408_8412dup, NG_008123.1:g.8407_8412dup, NG_008123.1:g.8406_8412dup, NG_008123.1:g.8403_8412dup, NG_008123.1:g.8402_8412dup, NG_008123.1:g.8400_8412dup, NG_008123.1:g.8385_8412T[51]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14911318128.

rs1491131812 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 1:42750650 (GRCh38)
1:43216321 (GRCh37)
Canonical SPDI:: NC_000001.11:42750649:CG:
Gene:: P3H1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00008/2 (TOMMO)
HGVS:: NC_000001.11:g.42750650_42750651del, NC_000001.10:g.43216321_43216322del, NG_008123.1:g.21434_21435del

Select item 14910722069.

rs1491072206 has merged into rs766034061 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:42763683 (GRCh38)
1:43229354 (GRCh37)
Canonical SPDI:: NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: P3H1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.42763683_42763700del, NC_000001.11:g.42763684_42763700del, NC_000001.11:g.42763685_42763700del, NC_000001.11:g.42763686_42763700del, NC_000001.11:g.42763687_42763700del, NC_000001.11:g.42763688_42763700del, NC_000001.11:g.42763689_42763700del, NC_000001.11:g.42763690_42763700del, NC_000001.11:g.42763691_42763700del, NC_000001.11:g.42763692_42763700del, NC_000001.11:g.42763693_42763700del, NC_000001.11:g.42763694_42763700del, NC_000001.11:g.42763696_42763700del, NC_000001.11:g.42763697_42763700del, NC_000001.11:g.42763698_42763700del, NC_000001.11:g.42763699_42763700del, NC_000001.11:g.42763700del, NC_000001.11:g.42763700dup, NC_000001.11:g.42763699_42763700dup, NC_000001.11:g.42763698_42763700dup, NC_000001.11:g.42763697_42763700dup, NC_000001.11:g.42763696_42763700dup, NC_000001.11:g.42763695_42763700dup, NC_000001.11:g.42763694_42763700dup, NC_000001.11:g.42763691_42763700dup, NC_000001.11:g.42763690_42763700dup, NC_000001.11:g.42763688_42763700dup, NC_000001.11:g.42763673_42763700A[40]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.43229354_43229371del, NC_000001.10:g.43229355_43229371del, NC_000001.10:g.43229356_43229371del, NC_000001.10:g.43229357_43229371del, NC_000001.10:g.43229358_43229371del, NC_000001.10:g.43229359_43229371del, NC_000001.10:g.43229360_43229371del, NC_000001.10:g.43229361_43229371del, NC_000001.10:g.43229362_43229371del, NC_000001.10:g.43229363_43229371del, NC_000001.10:g.43229364_43229371del, NC_000001.10:g.43229365_43229371del, NC_000001.10:g.43229367_43229371del, NC_000001.10:g.43229368_43229371del, NC_000001.10:g.43229369_43229371del, NC_000001.10:g.43229370_43229371del, NC_000001.10:g.43229371del, NC_000001.10:g.43229371dup, NC_000001.10:g.43229370_43229371dup, NC_000001.10:g.43229369_43229371dup, NC_000001.10:g.43229368_43229371dup, NC_000001.10:g.43229367_43229371dup, NC_000001.10:g.43229366_43229371dup, NC_000001.10:g.43229365_43229371dup, NC_000001.10:g.43229362_43229371dup, NC_000001.10:g.43229361_43229371dup, NC_000001.10:g.43229359_43229371dup, NC_000001.10:g.43229344_43229371A[40]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_008123.1:g.8395_8412del, NG_008123.1:g.8396_8412del, NG_008123.1:g.8397_8412del, NG_008123.1:g.8398_8412del, NG_008123.1:g.8399_8412del, NG_008123.1:g.8400_8412del, NG_008123.1:g.8401_8412del, NG_008123.1:g.8402_8412del, NG_008123.1:g.8403_8412del, NG_008123.1:g.8404_8412del, NG_008123.1:g.8405_8412del, NG_008123.1:g.8406_8412del, NG_008123.1:g.8408_8412del, NG_008123.1:g.8409_8412del, NG_008123.1:g.8410_8412del, NG_008123.1:g.8411_8412del, NG_008123.1:g.8412del, NG_008123.1:g.8412dup, NG_008123.1:g.8411_8412dup, NG_008123.1:g.8410_8412dup, NG_008123.1:g.8409_8412dup, NG_008123.1:g.8408_8412dup, NG_008123.1:g.8407_8412dup, NG_008123.1:g.8406_8412dup, NG_008123.1:g.8403_8412dup, NG_008123.1:g.8402_8412dup, NG_008123.1:g.8400_8412dup, NG_008123.1:g.8385_8412T[51]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 149106920710.

rs1491069207 has merged into rs36110403 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:42759990 (GRCh38)
1:43225661 (GRCh37)
Canonical SPDI:: NC_000001.11:42759981:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:42759981:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:42759981:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:42759981:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:42759981:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:42759981:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:42759981:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:42759981:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:42759981:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:42759981:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:42759981:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:42759981:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42759981:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42759981:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42759981:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42759981:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42759981:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42759981:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42759981:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:42759981:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: P3H1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.42759990_42760001del, NC_000001.11:g.42759991_42760001del, NC_000001.11:g.42759992_42760001del, NC_000001.11:g.42759994_42760001del, NC_000001.11:g.42759995_42760001del, NC_000001.11:g.42759996_42760001del, NC_000001.11:g.42759997_42760001del, NC_000001.11:g.42759998_42760001del, NC_000001.11:g.42759999_42760001del, NC_000001.11:g.42760000_42760001del, NC_000001.11:g.42760001del, NC_000001.11:g.42760001dup, NC_000001.11:g.42760000_42760001dup, NC_000001.11:g.42759999_42760001dup, NC_000001.11:g.42759998_42760001dup, NC_000001.11:g.42759997_42760001dup, NC_000001.11:g.42759996_42760001dup, NC_000001.11:g.42759995_42760001dup, NC_000001.11:g.42759994_42760001dup, NC_000001.11:g.42759992_42760001dup, NC_000001.10:g.43225661_43225672del, NC_000001.10:g.43225662_43225672del, NC_000001.10:g.43225663_43225672del, NC_000001.10:g.43225665_43225672del, NC_000001.10:g.43225666_43225672del, NC_000001.10:g.43225667_43225672del, NC_000001.10:g.43225668_43225672del, NC_000001.10:g.43225669_43225672del, NC_000001.10:g.43225670_43225672del, NC_000001.10:g.43225671_43225672del, NC_000001.10:g.43225672del, NC_000001.10:g.43225672dup, NC_000001.10:g.43225671_43225672dup, NC_000001.10:g.43225670_43225672dup, NC_000001.10:g.43225669_43225672dup, NC_000001.10:g.43225668_43225672dup, NC_000001.10:g.43225667_43225672dup, NC_000001.10:g.43225666_43225672dup, NC_000001.10:g.43225665_43225672dup, NC_000001.10:g.43225663_43225672dup, NG_008123.1:g.12092_12103del, NG_008123.1:g.12093_12103del, NG_008123.1:g.12094_12103del, NG_008123.1:g.12096_12103del, NG_008123.1:g.12097_12103del, NG_008123.1:g.12098_12103del, NG_008123.1:g.12099_12103del, NG_008123.1:g.12100_12103del, NG_008123.1:g.12101_12103del, NG_008123.1:g.12102_12103del, NG_008123.1:g.12103del, NG_008123.1:g.12103dup, NG_008123.1:g.12102_12103dup, NG_008123.1:g.12101_12103dup, NG_008123.1:g.12100_12103dup, NG_008123.1:g.12099_12103dup, NG_008123.1:g.12098_12103dup, NG_008123.1:g.12097_12103dup, NG_008123.1:g.12096_12103dup, NG_008123.1:g.12094_12103dup

Select item 149103283111.

rs1491032831 has merged into rs34887733 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 1:42768570 (GRCh38)
1:43234241 (GRCh37)
Canonical SPDI:: NC_000001.11:42768561:TTTTTTTTTT:TTTTTTTT,NC_000001.11:42768561:TTTTTTTTTT:TTTTTTTTT,NC_000001.11:42768561:TTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:42768561:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: P3H1 (Varview), C1orf50 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.234459/1041 (Estonian)
-=0.300467/1158 (ALSPAC)
-=0.305286/1132 (TWINSUK)
-=0.324466/85883 (TOPMED)
-=0.325/13 (GENOME_DK)
-=0.421577/1946 (1000Genomes)
HGVS:: NC_000001.11:g.42768570_42768571del, NC_000001.11:g.42768571del, NC_000001.11:g.42768571dup, NC_000001.11:g.42768570_42768571dup, NC_000001.10:g.43234241_43234242del, NC_000001.10:g.43234242del, NC_000001.10:g.43234242dup, NC_000001.10:g.43234241_43234242dup, NG_008123.1:g.3522_3523del, NG_008123.1:g.3523del, NG_008123.1:g.3523dup, NG_008123.1:g.3522_3523dup

Select item 149091142712.

rs1490911427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:42763077 (GRCh38)
1:43228748 (GRCh37)
Canonical SPDI:: NC_000001.11:42763076:C:A,NC_000001.11:42763076:C:G
Gene:: P3H1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000184/3 (ALFA)
G=0.000015/4 (TOPMED)
A=0.000248/4 (TOMMO)
HGVS:: NC_000001.11:g.42763077C>A, NC_000001.11:g.42763077C>G, NC_000001.10:g.43228748C>A, NC_000001.10:g.43228748C>G, NG_008123.1:g.9008G>T, NG_008123.1:g.9008G>C

Select item 149089142213.

rs1490891422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:42748280 (GRCh38)
1:43213951 (GRCh37)
Canonical SPDI:: NC_000001.11:42748279:G:A
Gene:: P3H1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42748280G>A, NC_000001.10:g.43213951G>A, NG_008123.1:g.23805C>T, NM_022356.4:c.1758C>T, NM_022356.3:c.1758C>T, NM_001243246.2:c.1758C>T, NM_001243246.1:c.1758C>T, NM_001146289.2:c.1758C>T, NM_001146289.1:c.1758C>T, XM_047427616.1:c.1758C>T, XM_047427621.1:c.783C>T, XM_047427626.1:c.780C>T, XM_047427629.1:c.651C>T

Select item 149081421914.

rs1490814219 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGGATCATGAGGTCAGGAGTTTGAGACCA>-,GCGGATCATGAGGTCAGGAGTTTGAGACCAGCGGATCATGAGGTCAGGAGTTTGAGACCA [Show Flanks]
Chromosome:: 1:42763948 (GRCh38)
1:43229619 (GRCh37)
Canonical SPDI:: NC_000001.11:42763917:GCGGATCATGAGGTCAGGAGTTTGAGACCAGCGGATCATGAGGTCAGGAGTTTGAGACCA:GCGGATCATGAGGTCAGGAGTTTGAGACCA,NC_000001.11:42763917:GCGGATCATGAGGTCAGGAGTTTGAGACCAGCGGATCATGAGGTCAGGAGTTTGAGACCA:GCGGATCATGAGGTCAGGAGTTTGAGACCAGCGGATCATGAGGTCAGGAGTTTGAGACCAGCGGATCATGAGGTCAGGAGTTTGAGACCA
Gene:: P3H1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGGATCATGAGGTCAGGAGTTTGAGACCAGCGGATCATGAGGTCAGGAGTTTGAGACCA=0.00017/2 (ALFA)
-=0.00218/4 (Korea1K)
HGVS:: NC_000001.11:g.42763918GCGGATCATGAGGTCAGGAGTTTGAGACCA[1], NC_000001.11:g.42763918GCGGATCATGAGGTCAGGAGTTTGAGACCA[3], NC_000001.10:g.43229589GCGGATCATGAGGTCAGGAGTTTGAGACCA[1], NC_000001.10:g.43229589GCGGATCATGAGGTCAGGAGTTTGAGACCA[3], NG_008123.1:g.8108TGGTCTCAAACTCCTGACCTCATGATCCGC[1], NG_008123.1:g.8108TGGTCTCAAACTCCTGACCTCATGATCCGC[3]

Select item 149057842015.

rs1490578420 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 1:42763671 (GRCh38)
1:43229342 (GRCh37)
Canonical SPDI:: NC_000001.11:42763668:TCTC:TC
Gene:: P3H1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCTC=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.42763669TC[1], NC_000001.10:g.43229340TC[1], NG_008123.1:g.8413GA[1]

Select item 149053983416.

rs1490539834 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:42748733 (GRCh38)
1:43214404 (GRCh37)
Canonical SPDI:: NC_000001.11:42748732:A:G
Gene:: P3H1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.42748733A>G, NC_000001.10:g.43214404A>G, NG_008123.1:g.23352T>C

Select item 149038512017.

rs1490385120 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:42746719 (GRCh38)
1:43212390 (GRCh37)
Canonical SPDI:: NC_000001.11:42746718:G:A
Gene:: P3H1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000013/2 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.42746719G>A, NC_000001.10:g.43212390G>A, NG_008123.1:g.25366C>T, NM_022356.4:c.2189C>T, NM_022356.3:c.2189C>T, NM_001243246.2:c.*193C>T, NM_001243246.1:c.*193C>T, NM_001146289.2:c.*114C>T, NM_001146289.1:c.*114C>T, XM_047427616.1:c.2390C>T, XM_047427621.1:c.1415C>T, XM_047427626.1:c.1412C>T, XM_047427629.1:c.1283C>T, NP_071751.3:p.Ser730Leu, XP_047283572.1:p.Ser797Leu, XP_047283577.1:p.Ser472Leu, XP_047283582.1:p.Ser471Leu, XP_047283585.1:p.Ser428Leu

Select item 149027371118.

rs1490273711 has merged into rs766034061 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:42763683 (GRCh38)
1:43229354 (GRCh37)
Canonical SPDI:: NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42763672:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: P3H1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.42763683_42763700del, NC_000001.11:g.42763684_42763700del, NC_000001.11:g.42763685_42763700del, NC_000001.11:g.42763686_42763700del, NC_000001.11:g.42763687_42763700del, NC_000001.11:g.42763688_42763700del, NC_000001.11:g.42763689_42763700del, NC_000001.11:g.42763690_42763700del, NC_000001.11:g.42763691_42763700del, NC_000001.11:g.42763692_42763700del, NC_000001.11:g.42763693_42763700del, NC_000001.11:g.42763694_42763700del, NC_000001.11:g.42763696_42763700del, NC_000001.11:g.42763697_42763700del, NC_000001.11:g.42763698_42763700del, NC_000001.11:g.42763699_42763700del, NC_000001.11:g.42763700del, NC_000001.11:g.42763700dup, NC_000001.11:g.42763699_42763700dup, NC_000001.11:g.42763698_42763700dup, NC_000001.11:g.42763697_42763700dup, NC_000001.11:g.42763696_42763700dup, NC_000001.11:g.42763695_42763700dup, NC_000001.11:g.42763694_42763700dup, NC_000001.11:g.42763691_42763700dup, NC_000001.11:g.42763690_42763700dup, NC_000001.11:g.42763688_42763700dup, NC_000001.11:g.42763673_42763700A[40]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.43229354_43229371del, NC_000001.10:g.43229355_43229371del, NC_000001.10:g.43229356_43229371del, NC_000001.10:g.43229357_43229371del, NC_000001.10:g.43229358_43229371del, NC_000001.10:g.43229359_43229371del, NC_000001.10:g.43229360_43229371del, NC_000001.10:g.43229361_43229371del, NC_000001.10:g.43229362_43229371del, NC_000001.10:g.43229363_43229371del, NC_000001.10:g.43229364_43229371del, NC_000001.10:g.43229365_43229371del, NC_000001.10:g.43229367_43229371del, NC_000001.10:g.43229368_43229371del, NC_000001.10:g.43229369_43229371del, NC_000001.10:g.43229370_43229371del, NC_000001.10:g.43229371del, NC_000001.10:g.43229371dup, NC_000001.10:g.43229370_43229371dup, NC_000001.10:g.43229369_43229371dup, NC_000001.10:g.43229368_43229371dup, NC_000001.10:g.43229367_43229371dup, NC_000001.10:g.43229366_43229371dup, NC_000001.10:g.43229365_43229371dup, NC_000001.10:g.43229362_43229371dup, NC_000001.10:g.43229361_43229371dup, NC_000001.10:g.43229359_43229371dup, NC_000001.10:g.43229344_43229371A[40]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_008123.1:g.8395_8412del, NG_008123.1:g.8396_8412del, NG_008123.1:g.8397_8412del, NG_008123.1:g.8398_8412del, NG_008123.1:g.8399_8412del, NG_008123.1:g.8400_8412del, NG_008123.1:g.8401_8412del, NG_008123.1:g.8402_8412del, NG_008123.1:g.8403_8412del, NG_008123.1:g.8404_8412del, NG_008123.1:g.8405_8412del, NG_008123.1:g.8406_8412del, NG_008123.1:g.8408_8412del, NG_008123.1:g.8409_8412del, NG_008123.1:g.8410_8412del, NG_008123.1:g.8411_8412del, NG_008123.1:g.8412del, NG_008123.1:g.8412dup, NG_008123.1:g.8411_8412dup, NG_008123.1:g.8410_8412dup, NG_008123.1:g.8409_8412dup, NG_008123.1:g.8408_8412dup, NG_008123.1:g.8407_8412dup, NG_008123.1:g.8406_8412dup, NG_008123.1:g.8403_8412dup, NG_008123.1:g.8402_8412dup, NG_008123.1:g.8400_8412dup, NG_008123.1:g.8385_8412T[51]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 149024840919.

rs1490248409 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:42762921 (GRCh38)
1:43228592 (GRCh37)
Canonical SPDI:: NC_000001.11:42762920:G:C
Gene:: P3H1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.42762921G>C, NC_000001.10:g.43228592G>C, NG_008123.1:g.9164C>G

Select item 149005433620.

rs1490054336 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:42760155 (GRCh38)
1:43225826 (GRCh37)
Canonical SPDI:: NC_000001.11:42760154:T:C
Gene:: P3H1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.42760155T>C, NC_000001.10:g.43225826T>C, NG_008123.1:g.11930A>G

<< First< Prev

Page of 293

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 5841

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity