SNP Links for Gene (Select 5467) - SNP

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Select item 14915585641.

rs1491558564 has merged into rs10539871 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:35399408 (GRCh38)
6:35367185 (GRCh37)
Canonical SPDI:: NC_000006.12:35399399:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000006.12:35399399:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:35399399:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:35399399:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:35399399:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:35399399:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:35399399:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:35399399:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35399399:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35399399:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35399399:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35399399:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35399399:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPARD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.35399408_35399419del, NC_000006.12:g.35399414_35399419del, NC_000006.12:g.35399415_35399419del, NC_000006.12:g.35399416_35399419del, NC_000006.12:g.35399417_35399419del, NC_000006.12:g.35399418_35399419del, NC_000006.12:g.35399419del, NC_000006.12:g.35399419dup, NC_000006.12:g.35399418_35399419dup, NC_000006.12:g.35399417_35399419dup, NC_000006.12:g.35399416_35399419dup, NC_000006.12:g.35399414_35399419dup, NC_000006.12:g.35399413_35399419dup, NC_000006.11:g.35367185_35367196del, NC_000006.11:g.35367191_35367196del, NC_000006.11:g.35367192_35367196del, NC_000006.11:g.35367193_35367196del, NC_000006.11:g.35367194_35367196del, NC_000006.11:g.35367195_35367196del, NC_000006.11:g.35367196del, NC_000006.11:g.35367196dup, NC_000006.11:g.35367195_35367196dup, NC_000006.11:g.35367194_35367196dup, NC_000006.11:g.35367193_35367196dup, NC_000006.11:g.35367191_35367196dup, NC_000006.11:g.35367190_35367196dup, NG_012345.2:g.61851_61862del, NG_012345.2:g.61857_61862del, NG_012345.2:g.61858_61862del, NG_012345.2:g.61859_61862del, NG_012345.2:g.61860_61862del, NG_012345.2:g.61861_61862del, NG_012345.2:g.61862del, NG_012345.2:g.61862dup, NG_012345.2:g.61861_61862dup, NG_012345.2:g.61860_61862dup, NG_012345.2:g.61859_61862dup, NG_012345.2:g.61857_61862dup, NG_012345.2:g.61856_61862dup

Select item 14915521432.

rs1491552143 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 6:35404953 (GRCh38)
6:35372730 (GRCh37)
Canonical SPDI:: NC_000006.12:35404951:TTT:T,NC_000006.12:35404951:TTT:TT
Gene:: PPARD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.00021/20 (GnomAD)
HGVS:: NC_000006.12:g.35404953_35404954del, NC_000006.12:g.35404954del, NC_000006.11:g.35372730_35372731del, NC_000006.11:g.35372731del, NG_012345.2:g.67396_67397del, NG_012345.2:g.67397del

Select item 14915197733.

rs1491519773 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:35404952 (GRCh38)
6:35372730 (GRCh37)
Canonical SPDI:: NC_000006.12:35404952::G
Gene:: PPARD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000546/1 (Korea1K)
G=0.002903/48 (TOMMO)
G=0.003423/375 (GnomAD)
HGVS:: NC_000006.12:g.35404952_35404953insG, NC_000006.11:g.35372729_35372730insG, NG_012345.2:g.67395_67396insG

Select item 14915060434.

rs1491506043 has merged into rs369825175 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGT>-,GT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 6:35415796 (GRCh38)
6:35383573 (GRCh37)
Canonical SPDI:: NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:35415778:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: PPARD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0.04952/248 (1000Genomes)
HGVS:: NC_000006.12:g.35415780GT[8], NC_000006.12:g.35415780GT[9], NC_000006.12:g.35415780GT[11], NC_000006.12:g.35415780GT[13], NC_000006.12:g.35415780GT[14], NC_000006.12:g.35415780GT[15], NC_000006.12:g.35415780GT[16], NC_000006.12:g.35415779_35415803TG[17]GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT[1], NC_000006.12:g.35415780GT[17], NC_000006.12:g.35415780GT[18], NC_000006.12:g.35415780GT[19], NC_000006.12:g.35415780GT[20], NC_000006.12:g.35415780GT[21], NC_000006.12:g.35415780GT[22], NC_000006.12:g.35415780GT[23], NC_000006.12:g.35415780GT[24], NC_000006.12:g.35415780GT[25], NC_000006.12:g.35415780GT[26], NC_000006.12:g.35415780GT[27], NC_000006.12:g.35415780GT[28], NC_000006.12:g.35415780GT[29], NC_000006.12:g.35415780GT[30], NC_000006.12:g.35415780GT[31], NC_000006.12:g.35415780GT[32], NC_000006.12:g.35415780GT[33], NC_000006.11:g.35383557GT[8], NC_000006.11:g.35383557GT[9], NC_000006.11:g.35383557GT[11], NC_000006.11:g.35383557GT[13], NC_000006.11:g.35383557GT[14], NC_000006.11:g.35383557GT[15], NC_000006.11:g.35383557GT[16], NC_000006.11:g.35383556_35383580TG[17]GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT[1], NC_000006.11:g.35383557GT[17], NC_000006.11:g.35383557GT[18], NC_000006.11:g.35383557GT[19], NC_000006.11:g.35383557GT[20], NC_000006.11:g.35383557GT[21], NC_000006.11:g.35383557GT[22], NC_000006.11:g.35383557GT[23], NC_000006.11:g.35383557GT[24], NC_000006.11:g.35383557GT[25], NC_000006.11:g.35383557GT[26], NC_000006.11:g.35383557GT[27], NC_000006.11:g.35383557GT[28], NC_000006.11:g.35383557GT[29], NC_000006.11:g.35383557GT[30], NC_000006.11:g.35383557GT[31], NC_000006.11:g.35383557GT[32], NC_000006.11:g.35383557GT[33], NG_012345.2:g.78223GT[8], NG_012345.2:g.78223GT[9], NG_012345.2:g.78223GT[11], NG_012345.2:g.78223GT[13], NG_012345.2:g.78223GT[14], NG_012345.2:g.78223GT[15], NG_012345.2:g.78223GT[16], NG_012345.2:g.78222_78246TG[17]GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT[1], NG_012345.2:g.78223GT[17], NG_012345.2:g.78223GT[18], NG_012345.2:g.78223GT[19], NG_012345.2:g.78223GT[20], NG_012345.2:g.78223GT[21], NG_012345.2:g.78223GT[22], NG_012345.2:g.78223GT[23], NG_012345.2:g.78223GT[24], NG_012345.2:g.78223GT[25], NG_012345.2:g.78223GT[26], NG_012345.2:g.78223GT[27], NG_012345.2:g.78223GT[28], NG_012345.2:g.78223GT[29], NG_012345.2:g.78223GT[30], NG_012345.2:g.78223GT[31], NG_012345.2:g.78223GT[32], NG_012345.2:g.78223GT[33]

Select item 14914461765.

rs1491446176 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:35341700 (GRCh38)
6:35309477 (GRCh37)
Canonical SPDI:: NC_000006.12:35341699:CA:
Gene:: PPARD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000006.12:g.35341700_35341701del, NC_000006.11:g.35309477_35309478del, NG_012345.2:g.4143_4144del

Select item 14913376786.

rs1491337678 has merged into rs1347497564 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:35354243 (GRCh38)
6:35322020 (GRCh37)
Canonical SPDI:: NC_000006.12:35354231:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:35354231:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:35354231:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:35354231:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:35354231:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:35354231:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:35354231:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:35354231:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35354231:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35354231:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35354231:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:35354231:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPARD (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.35354243_35354253del, NC_000006.12:g.35354244_35354253del, NC_000006.12:g.35354245_35354253del, NC_000006.12:g.35354247_35354253del, NC_000006.12:g.35354248_35354253del, NC_000006.12:g.35354250_35354253del, NC_000006.12:g.35354252_35354253del, NC_000006.12:g.35354253del, NC_000006.12:g.35354253dup, NC_000006.12:g.35354252_35354253dup, NC_000006.12:g.35354251_35354253dup, NC_000006.12:g.35354250_35354253dup, NC_000006.11:g.35322020_35322030del, NC_000006.11:g.35322021_35322030del, NC_000006.11:g.35322022_35322030del, NC_000006.11:g.35322024_35322030del, NC_000006.11:g.35322025_35322030del, NC_000006.11:g.35322027_35322030del, NC_000006.11:g.35322029_35322030del, NC_000006.11:g.35322030del, NC_000006.11:g.35322030dup, NC_000006.11:g.35322029_35322030dup, NC_000006.11:g.35322028_35322030dup, NC_000006.11:g.35322027_35322030dup, NG_012345.2:g.16686_16696del, NG_012345.2:g.16687_16696del, NG_012345.2:g.16688_16696del, NG_012345.2:g.16690_16696del, NG_012345.2:g.16691_16696del, NG_012345.2:g.16693_16696del, NG_012345.2:g.16695_16696del, NG_012345.2:g.16696del, NG_012345.2:g.16696dup, NG_012345.2:g.16695_16696dup, NG_012345.2:g.16694_16696dup, NG_012345.2:g.16693_16696dup

Select item 14913118897.

rs1491311889 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:35399399 (GRCh38)
6:35367176 (GRCh37)
Canonical SPDI:: NC_000006.12:35399398:CA:
Gene:: PPARD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.03296/533 (ALFA)
-=0.00276/5 (Korea1K)
-=0.00348/98 (TOMMO)
-=0.00448/152 (GnomAD)
HGVS:: NC_000006.12:g.35399399_35399400del, NC_000006.11:g.35367176_35367177del, NG_012345.2:g.61842_61843del

Select item 14912592208.

rs1491259220 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:35385646 (GRCh38)
6:35353423 (GRCh37)
Canonical SPDI:: NC_000006.12:35385645:TA:
Gene:: PPARD (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.04451/528 (ALFA)
-=0.00007/1 (TOMMO)
-=0.08439/7410 (GnomAD)
HGVS:: NC_000006.12:g.35385646_35385647del, NC_000006.11:g.35353423_35353424del, NG_012345.2:g.48089_48090del

Select item 14911292399.

rs1491129239 [Homo sapiens]

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

Select item 149108563010.

rs1491085630 has merged into rs529866520 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:35364443 (GRCh38)
6:35332220 (GRCh37)
Canonical SPDI:: NC_000006.12:35364431:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:35364431:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:35364431:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:35364431:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:35364431:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:35364431:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:35364431:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:35364431:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:35364431:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35364431:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35364431:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35364431:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35364431:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35364431:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35364431:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35364431:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35364431:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PPARD (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.07129/357 (1000Genomes)
HGVS:: NC_000006.12:g.35364443_35364451del, NC_000006.12:g.35364445_35364451del, NC_000006.12:g.35364446_35364451del, NC_000006.12:g.35364447_35364451del, NC_000006.12:g.35364448_35364451del, NC_000006.12:g.35364449_35364451del, NC_000006.12:g.35364450_35364451del, NC_000006.12:g.35364451del, NC_000006.12:g.35364451dup, NC_000006.12:g.35364450_35364451dup, NC_000006.12:g.35364449_35364451dup, NC_000006.12:g.35364448_35364451dup, NC_000006.12:g.35364447_35364451dup, NC_000006.12:g.35364446_35364451dup, NC_000006.12:g.35364445_35364451dup, NC_000006.12:g.35364443_35364451dup, NC_000006.12:g.35364434_35364451dup, NC_000006.11:g.35332220_35332228del, NC_000006.11:g.35332222_35332228del, NC_000006.11:g.35332223_35332228del, NC_000006.11:g.35332224_35332228del, NC_000006.11:g.35332225_35332228del, NC_000006.11:g.35332226_35332228del, NC_000006.11:g.35332227_35332228del, NC_000006.11:g.35332228del, NC_000006.11:g.35332228dup, NC_000006.11:g.35332227_35332228dup, NC_000006.11:g.35332226_35332228dup, NC_000006.11:g.35332225_35332228dup, NC_000006.11:g.35332224_35332228dup, NC_000006.11:g.35332223_35332228dup, NC_000006.11:g.35332222_35332228dup, NC_000006.11:g.35332220_35332228dup, NC_000006.11:g.35332211_35332228dup, NG_012345.2:g.26886_26894del, NG_012345.2:g.26888_26894del, NG_012345.2:g.26889_26894del, NG_012345.2:g.26890_26894del, NG_012345.2:g.26891_26894del, NG_012345.2:g.26892_26894del, NG_012345.2:g.26893_26894del, NG_012345.2:g.26894del, NG_012345.2:g.26894dup, NG_012345.2:g.26893_26894dup, NG_012345.2:g.26892_26894dup, NG_012345.2:g.26891_26894dup, NG_012345.2:g.26890_26894dup, NG_012345.2:g.26889_26894dup, NG_012345.2:g.26888_26894dup, NG_012345.2:g.26886_26894dup, NG_012345.2:g.26877_26894dup

Select item 149107083311.

rs1491070833 has merged into rs199635143 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:35388033 (GRCh38)
6:35355810 (GRCh37)
Canonical SPDI:: NC_000006.12:35388025:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000006.12:35388025:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:35388025:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:35388025:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:35388025:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:35388025:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:35388025:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: PPARD (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.24281/1216 (1000Genomes)
HGVS:: NC_000006.12:g.35388033_35388041del, NC_000006.12:g.35388036_35388041del, NC_000006.12:g.35388040_35388041del, NC_000006.12:g.35388041del, NC_000006.12:g.35388041dup, NC_000006.12:g.35388040_35388041dup, NC_000006.12:g.35388039_35388041dup, NC_000006.11:g.35355810_35355818del, NC_000006.11:g.35355813_35355818del, NC_000006.11:g.35355817_35355818del, NC_000006.11:g.35355818del, NC_000006.11:g.35355818dup, NC_000006.11:g.35355817_35355818dup, NC_000006.11:g.35355816_35355818dup, NG_012345.2:g.50476_50484del, NG_012345.2:g.50479_50484del, NG_012345.2:g.50483_50484del, NG_012345.2:g.50484del, NG_012345.2:g.50484dup, NG_012345.2:g.50483_50484dup, NG_012345.2:g.50482_50484dup

Select item 149107029512.

rs1491070295 has merged into rs528518233 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 6:35422580 (GRCh38)
6:35390357 (GRCh37)
Canonical SPDI:: NC_000006.12:35422577:GGGG:GG
Gene:: PPARD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0.000895/4 (ALFA)
-=0.000893/4 (Estonian)
-=0.002474/347 (GnomAD)
HGVS:: NC_000006.12:g.35422580_35422581del, NC_000006.11:g.35390357_35390358del, NG_012345.2:g.85023_85024del

Select item 149106937513.

rs1491069375 has merged into rs35852986 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:35420830 (GRCh38)
6:35388607 (GRCh37)
Canonical SPDI:: NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35420819:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PPARD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.35420830_35420844del, NC_000006.12:g.35420831_35420844del, NC_000006.12:g.35420832_35420844del, NC_000006.12:g.35420833_35420844del, NC_000006.12:g.35420834_35420844del, NC_000006.12:g.35420835_35420844del, NC_000006.12:g.35420836_35420844del, NC_000006.12:g.35420837_35420844del, NC_000006.12:g.35420838_35420844del, NC_000006.12:g.35420839_35420844del, NC_000006.12:g.35420840_35420844del, NC_000006.12:g.35420841_35420844del, NC_000006.12:g.35420843_35420844del, NC_000006.12:g.35420844del, NC_000006.12:g.35420844dup, NC_000006.12:g.35420843_35420844dup, NC_000006.12:g.35420842_35420844dup, NC_000006.12:g.35420841_35420844dup, NC_000006.12:g.35420840_35420844dup, NC_000006.12:g.35420839_35420844dup, NC_000006.12:g.35420838_35420844dup, NC_000006.12:g.35420837_35420844dup, NC_000006.12:g.35420836_35420844dup, NC_000006.12:g.35420835_35420844dup, NC_000006.12:g.35420834_35420844dup, NC_000006.12:g.35420833_35420844dup, NC_000006.12:g.35420832_35420844dup, NC_000006.12:g.35420831_35420844dup, NC_000006.12:g.35420830_35420844dup, NC_000006.12:g.35420829_35420844dup, NC_000006.12:g.35420827_35420844dup, NC_000006.12:g.35420826_35420844dup, NC_000006.12:g.35420824_35420844dup, NC_000006.12:g.35420823_35420844dup, NC_000006.12:g.35420822_35420844dup, NC_000006.12:g.35420844_35420845insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.35420844_35420845insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.35388607_35388621del, NC_000006.11:g.35388608_35388621del, NC_000006.11:g.35388609_35388621del, NC_000006.11:g.35388610_35388621del, NC_000006.11:g.35388611_35388621del, NC_000006.11:g.35388612_35388621del, NC_000006.11:g.35388613_35388621del, NC_000006.11:g.35388614_35388621del, NC_000006.11:g.35388615_35388621del, NC_000006.11:g.35388616_35388621del, NC_000006.11:g.35388617_35388621del, NC_000006.11:g.35388618_35388621del, NC_000006.11:g.35388620_35388621del, NC_000006.11:g.35388621del, NC_000006.11:g.35388621dup, NC_000006.11:g.35388620_35388621dup, NC_000006.11:g.35388619_35388621dup, NC_000006.11:g.35388618_35388621dup, NC_000006.11:g.35388617_35388621dup, NC_000006.11:g.35388616_35388621dup, NC_000006.11:g.35388615_35388621dup, NC_000006.11:g.35388614_35388621dup, NC_000006.11:g.35388613_35388621dup, NC_000006.11:g.35388612_35388621dup, NC_000006.11:g.35388611_35388621dup, NC_000006.11:g.35388610_35388621dup, NC_000006.11:g.35388609_35388621dup, NC_000006.11:g.35388608_35388621dup, NC_000006.11:g.35388607_35388621dup, NC_000006.11:g.35388606_35388621dup, NC_000006.11:g.35388604_35388621dup, NC_000006.11:g.35388603_35388621dup, NC_000006.11:g.35388601_35388621dup, NC_000006.11:g.35388600_35388621dup, NC_000006.11:g.35388599_35388621dup, NC_000006.11:g.35388621_35388622insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.35388621_35388622insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012345.2:g.83273_83287del, NG_012345.2:g.83274_83287del, NG_012345.2:g.83275_83287del, NG_012345.2:g.83276_83287del, NG_012345.2:g.83277_83287del, NG_012345.2:g.83278_83287del, NG_012345.2:g.83279_83287del, NG_012345.2:g.83280_83287del, NG_012345.2:g.83281_83287del, NG_012345.2:g.83282_83287del, NG_012345.2:g.83283_83287del, NG_012345.2:g.83284_83287del, NG_012345.2:g.83286_83287del, NG_012345.2:g.83287del, NG_012345.2:g.83287dup, NG_012345.2:g.83286_83287dup, NG_012345.2:g.83285_83287dup, NG_012345.2:g.83284_83287dup, NG_012345.2:g.83283_83287dup, NG_012345.2:g.83282_83287dup, NG_012345.2:g.83281_83287dup, NG_012345.2:g.83280_83287dup, NG_012345.2:g.83279_83287dup, NG_012345.2:g.83278_83287dup, NG_012345.2:g.83277_83287dup, NG_012345.2:g.83276_83287dup, NG_012345.2:g.83275_83287dup, NG_012345.2:g.83274_83287dup, NG_012345.2:g.83273_83287dup, NG_012345.2:g.83272_83287dup, NG_012345.2:g.83270_83287dup, NG_012345.2:g.83269_83287dup, NG_012345.2:g.83267_83287dup, NG_012345.2:g.83266_83287dup, NG_012345.2:g.83265_83287dup, NG_012345.2:g.83287_83288insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012345.2:g.83287_83288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149106755214.

rs1491067552 has merged into rs11321563 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 6:35373681 (GRCh38)
6:35341458 (GRCh37)
Canonical SPDI:: NC_000006.12:35373673:TTTTTTTTTTTT:TTTTTTT,NC_000006.12:35373673:TTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:35373673:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:35373673:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:35373673:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:35373673:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: PPARD (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.2748/1059 (ALSPAC)
-=0.2805/1040 (TWINSUK)
-=0.3805/1224 (1000Genomes)
HGVS:: NC_000006.12:g.35373681_35373685del, NC_000006.12:g.35373684_35373685del, NC_000006.12:g.35373685del, NC_000006.12:g.35373685dup, NC_000006.12:g.35373684_35373685dup, NC_000006.12:g.35373683_35373685dup, NC_000006.11:g.35341458_35341462del, NC_000006.11:g.35341461_35341462del, NC_000006.11:g.35341462del, NC_000006.11:g.35341462dup, NC_000006.11:g.35341461_35341462dup, NC_000006.11:g.35341460_35341462dup, NG_012345.2:g.36124_36128del, NG_012345.2:g.36127_36128del, NG_012345.2:g.36128del, NG_012345.2:g.36128dup, NG_012345.2:g.36127_36128dup, NG_012345.2:g.36126_36128dup

Select item 149100522715.

rs1491005227 has merged into rs754920670 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 6:35347606 (GRCh38)
6:35315383 (GRCh37)
Canonical SPDI:: NC_000006.12:35347603:TTTT:TT,NC_000006.12:35347603:TTTT:TTTTTT
Gene:: PPARD (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.35347606_35347607del, NC_000006.12:g.35347606_35347607dup, NC_000006.11:g.35315383_35315384del, NC_000006.11:g.35315383_35315384dup, NG_012345.2:g.10049_10050del, NG_012345.2:g.10049_10050dup

Select item 149097099716.

rs1490970997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:35390893 (GRCh38)
6:35358670 (GRCh37)
Canonical SPDI:: NC_000006.12:35390892:G:A
Gene:: PPARD (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.35390893G>A, NC_000006.11:g.35358670G>A, NG_012345.2:g.53336G>A

Select item 149096348517.

rs1490963485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:35427904 (GRCh38)
6:35395681 (GRCh37)
Canonical SPDI:: NC_000006.12:35427903:C:T
Gene:: PPARD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000094/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.35427904C>T, NC_000006.11:g.35395681C>T, NG_012345.2:g.90347C>T, NM_006238.5:c.*1825C>T, NM_006238.4:c.*1825C>T, NM_001171818.2:c.*1825C>T, NM_001171818.1:c.*1825C>T, NM_001171819.2:c.*1825C>T, NM_001171819.1:c.*1825C>T, NM_001171820.2:c.*1825C>T, NM_001171820.1:c.*1825C>T, XM_011514707.2:c.*1825C>T, XM_011514707.1:c.*1825C>T, XM_017010973.2:c.*1825C>T, XM_017010973.1:c.*1825C>T, XM_017010974.2:c.*1825C>T, XM_017010974.1:c.*1825C>T, XM_011514710.2:c.*1825C>T, XM_011514710.1:c.*1825C>T, XM_005249193.2:c.*1825C>T, XM_005249193.1:c.*1825C>T, XM_006715123.2:c.*1825C>T, XM_006715123.1:c.*1825C>T, XM_024446474.2:c.*1937C>T, XM_024446474.1:c.*1937C>T, XM_047418927.1:c.*1825C>T, XM_047418937.1:c.*1937C>T, XM_047418922.1:c.*1825C>T, XM_047418923.1:c.*1825C>T, XM_047418919.1:c.*1825C>T, XM_047418929.1:c.*1825C>T, XM_047418920.1:c.*1825C>T, XM_047418921.1:c.*1825C>T, XM_047418930.1:c.*1825C>T, XM_047418935.1:c.*1937C>T, XM_047418924.1:c.*1825C>T, XM_047418934.1:c.*1937C>T, XM_047418915.1:c.*1825C>T, XM_047418917.1:c.*1825C>T, XM_047418918.1:c.*1825C>T, XM_047418916.1:c.*1825C>T, XM_047418925.1:c.*1825C>T, XM_047418928.1:c.*1825C>T, XM_047418933.1:c.*1937C>T, XM_047418926.1:c.*1825C>T, NM_001039694.1:c.*1825C>T, XM_047418932.1:c.*1937C>T, XM_047418931.1:c.*1825C>T, XM_047418936.1:c.*1937C>T

Select item 149093977118.

rs1490939771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:35392057 (GRCh38)
6:35359834 (GRCh37)
Canonical SPDI:: NC_000006.12:35392056:G:A
Gene:: PPARD (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.35392057G>A, NC_000006.11:g.35359834G>A, NG_012345.2:g.54500G>A

Select item 149091635419.

rs1490916354 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:35415861 (GRCh38)
6:35383638 (GRCh37)
Canonical SPDI:: NC_000006.12:35415860:C:A,NC_000006.12:35415860:C:G
Gene:: PPARD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.35415861C>A, NC_000006.12:g.35415861C>G, NC_000006.11:g.35383638C>A, NC_000006.11:g.35383638C>G, NG_012345.2:g.78304C>A, NG_012345.2:g.78304C>G

Select item 149090882720.

rs1490908827 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:35361851 (GRCh38)
6:35329628 (GRCh37)
Canonical SPDI:: NC_000006.12:35361850:T:C
Gene:: PPARD (Varview)
Functional Consequence:: genic_upstream_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_000006.12:g.35361851T>C, NC_000006.11:g.35329628T>C, NG_012345.2:g.24294T>C

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