SNP Links for Gene (Select 10531) - SNP

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Select item 14915841051.

rs1491584105 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 10:3167288 (GRCh38)
10:3209480 (GRCh37)
Canonical SPDI:: NC_000010.11:3167286:GCG:G
Gene:: PITRM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00016/11 (GnomAD)
HGVS:: NC_000010.11:g.3167288_3167289del, NC_000010.10:g.3209480_3209481del, NG_052908.1:g.10554_10555del

Select item 14915618722.

rs1491561872 has merged into rs756979093 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 10:3162174 (GRCh38)
10:3204366 (GRCh37)
Canonical SPDI:: NC_000010.11:3162158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:3162158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:3162158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:3162158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:3162158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:3162158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3162158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3162158:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PITRM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000010.11:g.3162174_3162179del, NC_000010.11:g.3162176_3162179del, NC_000010.11:g.3162177_3162179del, NC_000010.11:g.3162178_3162179del, NC_000010.11:g.3162179del, NC_000010.11:g.3162179dup, NC_000010.11:g.3162178_3162179dup, NC_000010.11:g.3162177_3162179dup, NC_000010.10:g.3204366_3204371del, NC_000010.10:g.3204368_3204371del, NC_000010.10:g.3204369_3204371del, NC_000010.10:g.3204370_3204371del, NC_000010.10:g.3204371del, NC_000010.10:g.3204371dup, NC_000010.10:g.3204370_3204371dup, NC_000010.10:g.3204369_3204371dup, NG_052908.1:g.15678_15683del, NG_052908.1:g.15680_15683del, NG_052908.1:g.15681_15683del, NG_052908.1:g.15682_15683del, NG_052908.1:g.15683del, NG_052908.1:g.15683dup, NG_052908.1:g.15682_15683dup, NG_052908.1:g.15681_15683dup

Select item 14914759303.

rs1491475930 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 10:3162158 (GRCh38)
10:3204350 (GRCh37)
Canonical SPDI:: NC_000010.11:3162157:TA:
Gene:: PITRM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.216321/2566 (ALFA)
-=0.202303/3312 (TOMMO)
-=0.212062/109 (NorthernSweden)
-=0.236/28531 (GnomAD)
HGVS:: NC_000010.11:g.3162158_3162159del, NC_000010.10:g.3204350_3204351del, NG_052908.1:g.15683_15684del

Select item 14914711764.

rs1491471176 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:3150418 (GRCh38)
10:3192610 (GRCh37)
Canonical SPDI:: NC_000010.11:3150417:AT:
Gene:: PITRM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000996/14 (ALFA)
-=0.00133/352 (TOPMED)
-=0.001381/193 (GnomAD)
-=0.001874/12 (1000Genomes)
HGVS:: NC_000010.11:g.3150418_3150419del, NC_000010.10:g.3192610_3192611del, NG_052908.1:g.27423_27424del

Select item 14914189975.

rs1491418997 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 10:3168915 (GRCh38)
10:3211107 (GRCh37)
Canonical SPDI:: NC_000010.11:3168914:TA:
Gene:: PITRM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000039/5 (GnomAD)
HGVS:: NC_000010.11:g.3168915_3168916del, NC_000010.10:g.3211107_3211108del, NG_052908.1:g.8926_8927del

Select item 14913337426.

rs1491333742 has merged into rs61366911 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 10:3168925 (GRCh38)
10:3211117 (GRCh37)
Canonical SPDI:: NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:3168915:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: PITRM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0./0 (ALFA)
ACACACACACACACACACACACACACACACACACACACAC=0./0 (GENOME_DK)
-=0.4754/1832 (ALSPAC)
HGVS:: NC_000010.11:g.3168917CA[4], NC_000010.11:g.3168917CA[5], NC_000010.11:g.3168917CA[6], NC_000010.11:g.3168917CA[7], NC_000010.11:g.3168917CA[8], NC_000010.11:g.3168917CA[9], NC_000010.11:g.3168917CA[10], NC_000010.11:g.3168917CA[11], NC_000010.11:g.3168917CA[12], NC_000010.11:g.3168917CA[13], NC_000010.11:g.3168917CA[14], NC_000010.11:g.3168917CA[15], NC_000010.11:g.3168917CA[16], NC_000010.11:g.3168917CA[17], NC_000010.11:g.3168917CA[18], NC_000010.11:g.3168917CA[19], NC_000010.11:g.3168917CA[20], NC_000010.11:g.3168917CA[21], NC_000010.11:g.3168917CA[22], NC_000010.11:g.3168917CA[23], NC_000010.11:g.3168917CA[24], NC_000010.11:g.3168917CA[26], NC_000010.11:g.3168917CA[27], NC_000010.11:g.3168917CA[28], NC_000010.11:g.3168917CA[29], NC_000010.11:g.3168917CA[30], NC_000010.11:g.3168917CA[31], NC_000010.11:g.3168917CA[32], NC_000010.10:g.3211109CA[4], NC_000010.10:g.3211109CA[5], NC_000010.10:g.3211109CA[6], NC_000010.10:g.3211109CA[7], NC_000010.10:g.3211109CA[8], NC_000010.10:g.3211109CA[9], NC_000010.10:g.3211109CA[10], NC_000010.10:g.3211109CA[11], NC_000010.10:g.3211109CA[12], NC_000010.10:g.3211109CA[13], NC_000010.10:g.3211109CA[14], NC_000010.10:g.3211109CA[15], NC_000010.10:g.3211109CA[16], NC_000010.10:g.3211109CA[17], NC_000010.10:g.3211109CA[18], NC_000010.10:g.3211109CA[19], NC_000010.10:g.3211109CA[20], NC_000010.10:g.3211109CA[21], NC_000010.10:g.3211109CA[22], NC_000010.10:g.3211109CA[23], NC_000010.10:g.3211109CA[24], NC_000010.10:g.3211109CA[26], NC_000010.10:g.3211109CA[27], NC_000010.10:g.3211109CA[28], NC_000010.10:g.3211109CA[29], NC_000010.10:g.3211109CA[30], NC_000010.10:g.3211109CA[31], NC_000010.10:g.3211109CA[32], NG_052908.1:g.8877GT[4], NG_052908.1:g.8877GT[5], NG_052908.1:g.8877GT[6], NG_052908.1:g.8877GT[7], NG_052908.1:g.8877GT[8], NG_052908.1:g.8877GT[9], NG_052908.1:g.8877GT[10], NG_052908.1:g.8877GT[11], NG_052908.1:g.8877GT[12], NG_052908.1:g.8877GT[13], NG_052908.1:g.8877GT[14], NG_052908.1:g.8877GT[15], NG_052908.1:g.8877GT[16], NG_052908.1:g.8877GT[17], NG_052908.1:g.8877GT[18], NG_052908.1:g.8877GT[19], NG_052908.1:g.8877GT[20], NG_052908.1:g.8877GT[21], NG_052908.1:g.8877GT[22], NG_052908.1:g.8877GT[23], NG_052908.1:g.8877GT[24], NG_052908.1:g.8877GT[26], NG_052908.1:g.8877GT[27], NG_052908.1:g.8877GT[28], NG_052908.1:g.8877GT[29], NG_052908.1:g.8877GT[30], NG_052908.1:g.8877GT[31], NG_052908.1:g.8877GT[32]

Select item 14912449587.

rs1491244958 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:3164038 (GRCh38)
10:3206231 (GRCh37)
Canonical SPDI:: NC_000010.11:3164038::C
Gene:: PITRM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.3164038_3164039insC, NC_000010.10:g.3206230_3206231insC, NG_052908.1:g.13803_13804insG

Select item 14912312488.

rs1491231248 has merged into rs5782688 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:3164035 (GRCh38)
10:3206227 (GRCh37)
Canonical SPDI:: NC_000010.11:3164023:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:3164023:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:3164023:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:3164023:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:3164023:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:3164023:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:3164023:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:3164023:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:3164023:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:3164023:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PITRM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.3164035_3164039del, NC_000010.11:g.3164036_3164039del, NC_000010.11:g.3164037_3164039del, NC_000010.11:g.3164038_3164039del, NC_000010.11:g.3164039del, NC_000010.11:g.3164039dup, NC_000010.11:g.3164038_3164039dup, NC_000010.11:g.3164037_3164039dup, NC_000010.11:g.3164036_3164039dup, NC_000010.11:g.3164029_3164039dup, NC_000010.10:g.3206227_3206231del, NC_000010.10:g.3206228_3206231del, NC_000010.10:g.3206229_3206231del, NC_000010.10:g.3206230_3206231del, NC_000010.10:g.3206231del, NC_000010.10:g.3206231dup, NC_000010.10:g.3206230_3206231dup, NC_000010.10:g.3206229_3206231dup, NC_000010.10:g.3206228_3206231dup, NC_000010.10:g.3206221_3206231dup, NG_052908.1:g.13814_13818del, NG_052908.1:g.13815_13818del, NG_052908.1:g.13816_13818del, NG_052908.1:g.13817_13818del, NG_052908.1:g.13818del, NG_052908.1:g.13818dup, NG_052908.1:g.13817_13818dup, NG_052908.1:g.13816_13818dup, NG_052908.1:g.13815_13818dup, NG_052908.1:g.13808_13818dup

Select item 14911952129.

rs1491195212 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 10:3161851 (GRCh38)
10:3204043 (GRCh37)
Canonical SPDI:: NC_000010.11:3161850:GA:
Gene:: PITRM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000010.11:g.3161851_3161852del, NC_000010.10:g.3204043_3204044del, NG_052908.1:g.15990_15991del

Select item 149119475810.

rs1491194758 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAGAGAGCGAG [Show Flanks]
Chromosome:: 10:3167276 (GRCh38)
10:3209469 (GRCh37)
Canonical SPDI:: NC_000010.11:3167276:GAGAGAGAGAGCGAG:GAGAGAGAGAGCGAGAGAGAGAGCGAG
Gene:: PITRM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAGCGAGAGAGAGAGCGAG=0./0 (ALFA)
GAGAGAGAGAGC=0.000008/2 (TOPMED)
GAGAGAGAGAGC=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.3167280_3167291dup, NC_000010.10:g.3209472_3209483dup, NG_052908.1:g.10554_10565dup

Select item 149118819111.

rs1491188191 has merged into rs1169315061 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:3171161 (GRCh38)
10:3213353 (GRCh37)
Canonical SPDI:: NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:3171147:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PITRM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0099/4 (NorthernSweden)
HGVS:: NC_000010.11:g.3171161_3171184del, NC_000010.11:g.3171162_3171184del, NC_000010.11:g.3171163_3171184del, NC_000010.11:g.3171164_3171184del, NC_000010.11:g.3171165_3171184del, NC_000010.11:g.3171166_3171184del, NC_000010.11:g.3171167_3171184del, NC_000010.11:g.3171168_3171184del, NC_000010.11:g.3171169_3171184del, NC_000010.11:g.3171170_3171184del, NC_000010.11:g.3171171_3171184del, NC_000010.11:g.3171172_3171184del, NC_000010.11:g.3171173_3171184del, NC_000010.11:g.3171174_3171184del, NC_000010.11:g.3171175_3171184del, NC_000010.11:g.3171176_3171184del, NC_000010.11:g.3171177_3171184del, NC_000010.11:g.3171178_3171184del, NC_000010.11:g.3171179_3171184del, NC_000010.11:g.3171180_3171184del, NC_000010.11:g.3171181_3171184del, NC_000010.11:g.3171182_3171184del, NC_000010.11:g.3171183_3171184del, NC_000010.11:g.3171184del, NC_000010.11:g.3171184dup, NC_000010.11:g.3171183_3171184dup, NC_000010.11:g.3171182_3171184dup, NC_000010.11:g.3171181_3171184dup, NC_000010.11:g.3171180_3171184dup, NC_000010.11:g.3171179_3171184dup, NC_000010.11:g.3171178_3171184dup, NC_000010.11:g.3171177_3171184dup, NC_000010.11:g.3171176_3171184dup, NC_000010.11:g.3171175_3171184dup, NC_000010.11:g.3171174_3171184dup, NC_000010.11:g.3171172_3171184dup, NC_000010.11:g.3171170_3171184dup, NC_000010.11:g.3171165_3171184dup, NC_000010.11:g.3171152_3171184dup, NC_000010.10:g.3213353_3213376del, NC_000010.10:g.3213354_3213376del, NC_000010.10:g.3213355_3213376del, NC_000010.10:g.3213356_3213376del, NC_000010.10:g.3213357_3213376del, NC_000010.10:g.3213358_3213376del, NC_000010.10:g.3213359_3213376del, NC_000010.10:g.3213360_3213376del, NC_000010.10:g.3213361_3213376del, NC_000010.10:g.3213362_3213376del, NC_000010.10:g.3213363_3213376del, NC_000010.10:g.3213364_3213376del, NC_000010.10:g.3213365_3213376del, NC_000010.10:g.3213366_3213376del, NC_000010.10:g.3213367_3213376del, NC_000010.10:g.3213368_3213376del, NC_000010.10:g.3213369_3213376del, NC_000010.10:g.3213370_3213376del, NC_000010.10:g.3213371_3213376del, NC_000010.10:g.3213372_3213376del, NC_000010.10:g.3213373_3213376del, NC_000010.10:g.3213374_3213376del, NC_000010.10:g.3213375_3213376del, NC_000010.10:g.3213376del, NC_000010.10:g.3213376dup, NC_000010.10:g.3213375_3213376dup, NC_000010.10:g.3213374_3213376dup, NC_000010.10:g.3213373_3213376dup, NC_000010.10:g.3213372_3213376dup, NC_000010.10:g.3213371_3213376dup, NC_000010.10:g.3213370_3213376dup, NC_000010.10:g.3213369_3213376dup, NC_000010.10:g.3213368_3213376dup, NC_000010.10:g.3213367_3213376dup, NC_000010.10:g.3213366_3213376dup, NC_000010.10:g.3213364_3213376dup, NC_000010.10:g.3213362_3213376dup, NC_000010.10:g.3213357_3213376dup, NC_000010.10:g.3213344_3213376dup, NG_052908.1:g.6671_6694del, NG_052908.1:g.6672_6694del, NG_052908.1:g.6673_6694del, NG_052908.1:g.6674_6694del, NG_052908.1:g.6675_6694del, NG_052908.1:g.6676_6694del, NG_052908.1:g.6677_6694del, NG_052908.1:g.6678_6694del, NG_052908.1:g.6679_6694del, NG_052908.1:g.6680_6694del, NG_052908.1:g.6681_6694del, NG_052908.1:g.6682_6694del, NG_052908.1:g.6683_6694del, NG_052908.1:g.6684_6694del, NG_052908.1:g.6685_6694del, NG_052908.1:g.6686_6694del, NG_052908.1:g.6687_6694del, NG_052908.1:g.6688_6694del, NG_052908.1:g.6689_6694del, NG_052908.1:g.6690_6694del, NG_052908.1:g.6691_6694del, NG_052908.1:g.6692_6694del, NG_052908.1:g.6693_6694del, NG_052908.1:g.6694del, NG_052908.1:g.6694dup, NG_052908.1:g.6693_6694dup, NG_052908.1:g.6692_6694dup, NG_052908.1:g.6691_6694dup, NG_052908.1:g.6690_6694dup, NG_052908.1:g.6689_6694dup, NG_052908.1:g.6688_6694dup, NG_052908.1:g.6687_6694dup, NG_052908.1:g.6686_6694dup, NG_052908.1:g.6685_6694dup, NG_052908.1:g.6684_6694dup, NG_052908.1:g.6682_6694dup, NG_052908.1:g.6680_6694dup, NG_052908.1:g.6675_6694dup, NG_052908.1:g.6662_6694dup

Select item 149118022912.

rs1491180229 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:3164024 (GRCh38)
10:3206217 (GRCh37)
Canonical SPDI:: NC_000010.11:3164024::T
Gene:: PITRM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.3164024_3164025insT, NC_000010.10:g.3206216_3206217insT, NG_052908.1:g.13817_13818insA

Select item 149116931713.

rs1491169317 has merged into rs10567396 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA [Show Flanks]
Chromosome:: 10:3161860 (GRCh38)
10:3204052 (GRCh37)
Canonical SPDI:: NC_000010.11:3161851:AAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:3161851:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:3161851:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:3161851:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:3161851:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:3161851:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: PITRM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.3442/1724 (1000Genomes)
HGVS:: NC_000010.11:g.3161860_3161865del, NC_000010.11:g.3161862_3161865del, NC_000010.11:g.3161863_3161865del, NC_000010.11:g.3161864_3161865del, NC_000010.11:g.3161865del, NC_000010.11:g.3161865dup, NC_000010.10:g.3204052_3204057del, NC_000010.10:g.3204054_3204057del, NC_000010.10:g.3204055_3204057del, NC_000010.10:g.3204056_3204057del, NC_000010.10:g.3204057del, NC_000010.10:g.3204057dup, NG_052908.1:g.15985_15990del, NG_052908.1:g.15987_15990del, NG_052908.1:g.15988_15990del, NG_052908.1:g.15989_15990del, NG_052908.1:g.15990del, NG_052908.1:g.15990dup

Select item 149113607014.

rs1491136070 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 10:3171147 (GRCh38)
10:3213339 (GRCh37)
Canonical SPDI:: NC_000010.11:3171146:TA:
Gene:: PITRM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00725/86 (ALFA)
-=0.0159/542 (GnomAD)
-=0.03145/496 (TOMMO)
HGVS:: NC_000010.11:g.3171147_3171148del, NC_000010.10:g.3213339_3213340del, NG_052908.1:g.6694_6695del

Select item 149098559415.

rs1490985594 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:3147864 (GRCh38)
10:3190056 (GRCh37)
Canonical SPDI:: NC_000010.11:3147863:T:C
Gene:: PITRM1 (Varview), PITRM1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.3147864T>C, NC_000010.10:g.3190056T>C, NG_052908.1:g.29978A>G, NR_038284.1:n.3311T>C

Select item 149097569016.

rs1490975690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:3139372 (GRCh38)
10:3181564 (GRCh37)
Canonical SPDI:: NC_000010.11:3139371:G:A,NC_000010.11:3139371:G:T
Gene:: PITRM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.3139372G>A, NC_000010.11:g.3139372G>T, NC_000010.10:g.3181564G>A, NC_000010.10:g.3181564G>T, NG_052908.1:g.38470C>T, NG_052908.1:g.38470C>A

Select item 149095325417.

rs1490953254 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:3150135 (GRCh38)
10:3192327 (GRCh37)
Canonical SPDI:: NC_000010.11:3150134:G:A
Gene:: PITRM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.3150135G>A, NC_000010.10:g.3192327G>A, NG_052908.1:g.27707C>T

Select item 149086353518.

rs1490863535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:3169774 (GRCh38)
10:3211966 (GRCh37)
Canonical SPDI:: NC_000010.11:3169773:G:A
Gene:: PITRM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000010.11:g.3169774G>A, NC_000010.10:g.3211966G>A, NG_052908.1:g.8068C>T

Select item 149082025719.

rs1490820257 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 10:3149672 (GRCh38)
10:3191864 (GRCh37)
Canonical SPDI:: NC_000010.11:3149671:A:
Gene:: PITRM1 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.3149672del, NC_000010.10:g.3191864del, NG_052908.1:g.28170del, NM_014889.4:c.1820del, NM_014889.3:c.1820del, NR_144639.2:n.1830del, NR_144639.1:n.1889del, NR_144640.2:n.1830del, NR_144640.1:n.1889del, NR_144641.2:n.1830del, NR_144641.1:n.1889del, NR_144638.2:n.1830del, NR_144638.1:n.1889del, NM_001242307.2:c.1820del, NM_001242307.1:c.1820del, NM_001347728.2:c.515del, NM_001347728.1:c.515del, NM_001347727.2:c.1205del, NM_001347727.1:c.1205del, NM_001347725.2:c.1820del, NM_001347725.1:c.1820del, NM_001347726.2:c.1205del, NM_001347726.1:c.1205del, NM_001347729.1:c.1796del, NM_001347730.1:c.1796del, NM_001242309.1:c.1724del, XM_047424445.1:c.1848del, XM_047424446.1:c.1848del, NM_014968.1:c.494del, NP_055704.2:p.Leu607fs, NP_001229236.1:p.Leu607fs, NP_001334657.1:p.Leu172fs, NP_001334656.1:p.Leu402fs, NP_001334654.1:p.Leu607fs, NP_001334655.1:p.Leu402fs, NP_001334658.1:p.Leu599fs, NP_001334659.1:p.Leu599fs, NP_001229238.1:p.Leu575fs, XP_047280401.1:p.Arg618fs, XP_047280402.1:p.Arg618fs

Select item 149068158920.

rs1490681589 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 10:3155708 (GRCh38)
10:3197901 (GRCh37)
Canonical SPDI:: NC_000010.11:3155708:A:ATA
Gene:: PITRM1 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
AT=0.000004/1 (GnomAD_exomes)
AT=0.000004/1 (TOPMED)
AT=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.3155709_3155710insTA, NC_000010.10:g.3197901_3197902insTA, NG_052908.1:g.22133_22134insAT, NM_014889.4:c.1503_1504insAT, NM_014889.3:c.1503_1504insAT, NR_144639.2:n.1513_1514insAT, NR_144639.1:n.1572_1573insAT, NR_144640.2:n.1513_1514insAT, NR_144640.1:n.1572_1573insAT, NR_144641.2:n.1513_1514insAT, NR_144641.1:n.1572_1573insAT, NR_144638.2:n.1513_1514insAT, NR_144638.1:n.1572_1573insAT, NM_001242307.2:c.1503_1504insAT, NM_001242307.1:c.1503_1504insAT, NM_001347728.2:c.198_199insAT, NM_001347728.1:c.198_199insAT, NM_001347727.2:c.888_889insAT, NM_001347727.1:c.888_889insAT, NM_001347725.2:c.1503_1504insAT, NM_001347725.1:c.1503_1504insAT, NM_001347726.2:c.888_889insAT, NM_001347726.1:c.888_889insAT, NM_001347729.1:c.1479_1480insAT, NM_001347730.1:c.1479_1480insAT, NM_001242309.1:c.1407_1408insAT, XM_047424445.1:c.1503_1504insAT, XM_047424446.1:c.1503_1504insAT, NM_014968.1:c.177_178insAT, NP_055704.2:p.Leu502fs, NP_001229236.1:p.Leu502fs, NP_001334657.1:p.Leu67fs, NP_001334656.1:p.Leu297fs, NP_001334654.1:p.Leu502fs, NP_001334655.1:p.Leu297fs, NP_001334658.1:p.Leu494fs, NP_001334659.1:p.Leu494fs, NP_001229238.1:p.Leu470fs, XP_047280401.1:p.Leu502fs, XP_047280402.1:p.Leu502fs

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