SNP Links for Gene (Select 51400) - SNP

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Select item 14914801181.

rs1491480118 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:74242878 (GRCh38)
11:73953923 (GRCh37)
Canonical SPDI:: NC_000011.10:74242877:CA:
Gene:: PPME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000011.10:g.74242878_74242879del, NC_000011.9:g.73953923_73953924del

Select item 14914752532.

rs1491475253 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:74182994 (GRCh38)
11:73894039 (GRCh37)
Canonical SPDI:: NC_000011.10:74182993:CA:
Gene:: PPME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.74182994_74182995del, NC_000011.9:g.73894039_73894040del

Select item 14914691663.

rs1491469166 has merged into rs1555076989 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 11:74204158 (GRCh38)
11:73915203 (GRCh37)
Canonical SPDI:: NC_000011.10:74204146:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:74204146:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:74204146:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:74204146:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:74204146:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: PPME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.00167/1 (NorthernSweden)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000011.10:g.74204158_74204161del, NC_000011.10:g.74204160_74204161del, NC_000011.10:g.74204161del, NC_000011.10:g.74204161dup, NC_000011.10:g.74204160_74204161dup, NC_000011.9:g.73915203_73915206del, NC_000011.9:g.73915205_73915206del, NC_000011.9:g.73915206del, NC_000011.9:g.73915206dup, NC_000011.9:g.73915205_73915206dup

Select item 14913213384.

rs1491321338 has merged into rs5792649 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:74242889 (GRCh38)
11:73953934 (GRCh37)
Canonical SPDI:: NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74242878:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.74242889_74242903del, NC_000011.10:g.74242890_74242903del, NC_000011.10:g.74242891_74242903del, NC_000011.10:g.74242892_74242903del, NC_000011.10:g.74242893_74242903del, NC_000011.10:g.74242894_74242903del, NC_000011.10:g.74242898_74242903del, NC_000011.10:g.74242899_74242903del, NC_000011.10:g.74242900_74242903del, NC_000011.10:g.74242901_74242903del, NC_000011.10:g.74242902_74242903del, NC_000011.10:g.74242903del, NC_000011.10:g.74242903dup, NC_000011.10:g.74242902_74242903dup, NC_000011.10:g.74242901_74242903dup, NC_000011.10:g.74242900_74242903dup, NC_000011.10:g.74242899_74242903dup, NC_000011.10:g.74242898_74242903dup, NC_000011.10:g.74242897_74242903dup, NC_000011.10:g.74242896_74242903dup, NC_000011.10:g.74242894_74242903dup, NC_000011.10:g.74242890_74242903dup, NC_000011.10:g.74242886_74242903dup, NC_000011.9:g.73953934_73953948del, NC_000011.9:g.73953935_73953948del, NC_000011.9:g.73953936_73953948del, NC_000011.9:g.73953937_73953948del, NC_000011.9:g.73953938_73953948del, NC_000011.9:g.73953939_73953948del, NC_000011.9:g.73953943_73953948del, NC_000011.9:g.73953944_73953948del, NC_000011.9:g.73953945_73953948del, NC_000011.9:g.73953946_73953948del, NC_000011.9:g.73953947_73953948del, NC_000011.9:g.73953948del, NC_000011.9:g.73953948dup, NC_000011.9:g.73953947_73953948dup, NC_000011.9:g.73953946_73953948dup, NC_000011.9:g.73953945_73953948dup, NC_000011.9:g.73953944_73953948dup, NC_000011.9:g.73953943_73953948dup, NC_000011.9:g.73953942_73953948dup, NC_000011.9:g.73953941_73953948dup, NC_000011.9:g.73953939_73953948dup, NC_000011.9:g.73953935_73953948dup, NC_000011.9:g.73953931_73953948dup

Select item 14913165275.

rs1491316527 has merged into rs34350281 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:74183005 (GRCh38)
11:73894050 (GRCh37)
Canonical SPDI:: NC_000011.10:74182994:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:74182994:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:74182994:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:74182994:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:74182994:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:74182994:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:74182994:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74182994:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74182994:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2514/1259 (1000Genomes)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000011.10:g.74183005_74183010del, NC_000011.10:g.74183007_74183010del, NC_000011.10:g.74183008_74183010del, NC_000011.10:g.74183009_74183010del, NC_000011.10:g.74183010del, NC_000011.10:g.74183010dup, NC_000011.10:g.74183006_74183010dup, NC_000011.10:g.74183003_74183010dup, NC_000011.10:g.74183000_74183010dup, NC_000011.9:g.73894050_73894055del, NC_000011.9:g.73894052_73894055del, NC_000011.9:g.73894053_73894055del, NC_000011.9:g.73894054_73894055del, NC_000011.9:g.73894055del, NC_000011.9:g.73894055dup, NC_000011.9:g.73894051_73894055dup, NC_000011.9:g.73894048_73894055dup, NC_000011.9:g.73894045_73894055dup

Select item 14912639006.

rs1491263900 has merged into rs61139169 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:74217550 (GRCh38)
11:73928595 (GRCh37)
Canonical SPDI:: NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74217541:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000011.10:g.74217550_74217563del, NC_000011.10:g.74217551_74217563del, NC_000011.10:g.74217552_74217563del, NC_000011.10:g.74217553_74217563del, NC_000011.10:g.74217554_74217563del, NC_000011.10:g.74217555_74217563del, NC_000011.10:g.74217556_74217563del, NC_000011.10:g.74217557_74217563del, NC_000011.10:g.74217558_74217563del, NC_000011.10:g.74217559_74217563del, NC_000011.10:g.74217560_74217563del, NC_000011.10:g.74217561_74217563del, NC_000011.10:g.74217562_74217563del, NC_000011.10:g.74217563del, NC_000011.10:g.74217563dup, NC_000011.10:g.74217562_74217563dup, NC_000011.10:g.74217561_74217563dup, NC_000011.10:g.74217560_74217563dup, NC_000011.10:g.74217559_74217563dup, NC_000011.10:g.74217558_74217563dup, NC_000011.10:g.74217557_74217563dup, NC_000011.10:g.74217556_74217563dup, NC_000011.10:g.74217554_74217563dup, NC_000011.10:g.74217550_74217563dup, NC_000011.10:g.74217546_74217563dup, NC_000011.10:g.74217563_74217564insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.74217563_74217564insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.74217563_74217564insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.73928595_73928608del, NC_000011.9:g.73928596_73928608del, NC_000011.9:g.73928597_73928608del, NC_000011.9:g.73928598_73928608del, NC_000011.9:g.73928599_73928608del, NC_000011.9:g.73928600_73928608del, NC_000011.9:g.73928601_73928608del, NC_000011.9:g.73928602_73928608del, NC_000011.9:g.73928603_73928608del, NC_000011.9:g.73928604_73928608del, NC_000011.9:g.73928605_73928608del, NC_000011.9:g.73928606_73928608del, NC_000011.9:g.73928607_73928608del, NC_000011.9:g.73928608del, NC_000011.9:g.73928608dup, NC_000011.9:g.73928607_73928608dup, NC_000011.9:g.73928606_73928608dup, NC_000011.9:g.73928605_73928608dup, NC_000011.9:g.73928604_73928608dup, NC_000011.9:g.73928603_73928608dup, NC_000011.9:g.73928602_73928608dup, NC_000011.9:g.73928601_73928608dup, NC_000011.9:g.73928599_73928608dup, NC_000011.9:g.73928595_73928608dup, NC_000011.9:g.73928591_73928608dup, NC_000011.9:g.73928608_73928609insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.73928608_73928609insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.73928608_73928609insAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14911560427.

rs1491156042 [Homo sapiens]

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

Select item 14911471678.

rs1491147167 has merged into rs534209366 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 11:74208326 (GRCh38)
11:73919371 (GRCh37)
Canonical SPDI:: NC_000011.10:74208313:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:74208313:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:74208313:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:74208313:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:74208313:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:74208313:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: PPME1 (Varview), LOC105369383 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.01174/7 (NorthernSweden)
-=0.075/3 (GENOME_DK)
A=0.12879/645 (1000Genomes)
HGVS:: NC_000011.10:g.74208326_74208328del, NC_000011.10:g.74208327_74208328del, NC_000011.10:g.74208328del, NC_000011.10:g.74208328dup, NC_000011.10:g.74208327_74208328dup, NC_000011.10:g.74208326_74208328dup, NC_000011.9:g.73919371_73919373del, NC_000011.9:g.73919372_73919373del, NC_000011.9:g.73919373del, NC_000011.9:g.73919373dup, NC_000011.9:g.73919372_73919373dup, NC_000011.9:g.73919371_73919373dup

Select item 14911065829.

rs1491106582 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:74217541 (GRCh38)
11:73928586 (GRCh37)
Canonical SPDI:: NC_000011.10:74217540:CA:
Gene:: PPME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00236/28 (ALFA)
HGVS:: NC_000011.10:g.74217541_74217542del, NC_000011.9:g.73928586_73928587del

Select item 149108612610.

rs1491086126 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 11:74232883 (GRCh38)
11:73943928 (GRCh37)
Canonical SPDI:: NC_000011.10:74232881:TGT:T
Gene:: PPME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.74232883_74232884del, NC_000011.9:g.73943928_73943929del

Select item 149102103411.

rs1491021034 [Homo sapiens]

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

Select item 149094896312.

rs1490948963 [Homo sapiens]

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

Select item 149094445913.

rs1490944459 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:74199826 (GRCh38)
11:73910871 (GRCh37)
Canonical SPDI:: NC_000011.10:74199825:G:T
Gene:: PPME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.74199826G>T, NC_000011.9:g.73910871G>T

Select item 149092951914.

rs1490929519 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:74236120 (GRCh38)
11:73947165 (GRCh37)
Canonical SPDI:: NC_000011.10:74236119:A:G,NC_000011.10:74236119:A:T
Gene:: PPME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.74236120A>G, NC_000011.10:g.74236120A>T, NC_000011.9:g.73947165A>G, NC_000011.9:g.73947165A>T

Select item 149090340215.

rs1490903402 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:74238327 (GRCh38)
11:73949372 (GRCh37)
Canonical SPDI:: NC_000011.10:74238326:T:C
Gene:: PPME1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000011.10:g.74238327T>C, NC_000011.9:g.73949372T>C

Select item 149087779116.

rs1490877791 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:74238188 (GRCh38)
11:73949233 (GRCh37)
Canonical SPDI:: NC_000011.10:74238187:A:T
Gene:: PPME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0004/2 (ALFA)
T=0.0004/2 (Estonian)
HGVS:: NC_000011.10:g.74238188A>T, NC_000011.9:g.73949233A>T

Select item 149078464017.

rs1490784640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:74224685 (GRCh38)
11:73935730 (GRCh37)
Canonical SPDI:: NC_000011.10:74224684:T:C
Gene:: PPME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.74224685T>C, NC_000011.9:g.73935730T>C

Select item 149074082418.

rs1490740824 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:74242541 (GRCh38)
11:73953586 (GRCh37)
Canonical SPDI:: NC_000011.10:74242540:T:A
Gene:: PPME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.74242541T>A, NC_000011.9:g.73953586T>A

Select item 149072482519.

rs1490724825 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:74241323 (GRCh38)
11:73952368 (GRCh37)
Canonical SPDI:: NC_000011.10:74241322:T:C
Gene:: PPME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.74241323T>C, NC_000011.9:g.73952368T>C

Select item 149071785420.

rs1490717854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:74230267 (GRCh38)
11:73941312 (GRCh37)
Canonical SPDI:: NC_000011.10:74230266:G:A
Gene:: PPME1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000011.10:g.74230267G>A, NC_000011.9:g.73941312G>A, XM_017017913.3:c.421G>A, XM_017017913.2:c.421G>A, XM_017017913.1:c.421G>A, NM_016147.3:c.421G>A, NM_016147.2:c.421G>A, NM_001271593.2:c.421G>A, NM_001271593.1:c.421G>A, XM_047427116.1:c.421G>A, XP_016873402.1:p.Ala141Thr, NP_057231.1:p.Ala141Thr, NP_001258522.1:p.Ala141Thr, XP_047283072.1:p.Ala141Thr

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