SNP Links for Nucleotide (Select 211904121) - SNP

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Select item 14915322951.

rs1491532295 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:75912207 (GRCh38)
7:75541525 (GRCh37)
Canonical SPDI:: NC_000007.14:75912206:CA:
Gene:: LOC124901680 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.75912207_75912208del, NC_000007.13:g.75541525_75541526del, NG_008930.1:g.2106_2107del, NW_003871064.1:g.3441443_3441444del

Select item 14914865542.

rs1491486554 has merged into rs782347388 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCCC,CCCCCCCCCCCC [Show Flanks]
Chromosome:: 7:75951074 (GRCh38)
7:75580392 (GRCh37)
Canonical SPDI:: NC_000007.14:75951062:CCCCCCCCCCCCCC:CCCCCCCCCCC,NC_000007.14:75951062:CCCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000007.14:75951062:CCCCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000007.14:75951062:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000007.14:75951062:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000007.14:75951062:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000007.14:75951062:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000007.14:75951062:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000007.14:75951062:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000007.14:75951062:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC
Gene:: POR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCC=0./0 (ALFA)
HGVS:: NC_000007.14:g.75951074_75951076del, NC_000007.14:g.75951075_75951076del, NC_000007.14:g.75951076del, NC_000007.14:g.75951076dup, NC_000007.14:g.75951075_75951076dup, NC_000007.14:g.75951074_75951076dup, NC_000007.14:g.75951073_75951076dup, NC_000007.14:g.75951072_75951076dup, NC_000007.14:g.75951070_75951076dup, NC_000007.14:g.75951068_75951076dup, NC_000007.13:g.75580392_75580394del, NC_000007.13:g.75580393_75580394del, NC_000007.13:g.75580394del, NC_000007.13:g.75580394dup, NC_000007.13:g.75580393_75580394dup, NC_000007.13:g.75580392_75580394dup, NC_000007.13:g.75580391_75580394dup, NC_000007.13:g.75580390_75580394dup, NC_000007.13:g.75580388_75580394dup, NC_000007.13:g.75580386_75580394dup, NG_008930.1:g.40973_40975del, NG_008930.1:g.40974_40975del, NG_008930.1:g.40975del, NG_008930.1:g.40975dup, NG_008930.1:g.40974_40975dup, NG_008930.1:g.40973_40975dup, NG_008930.1:g.40972_40975dup, NG_008930.1:g.40971_40975dup, NG_008930.1:g.40969_40975dup, NG_008930.1:g.40967_40975dup, NW_003871064.1:g.3480310_3480312del, NW_003871064.1:g.3480311_3480312del, NW_003871064.1:g.3480312del, NW_003871064.1:g.3480312dup, NW_003871064.1:g.3480311_3480312dup, NW_003871064.1:g.3480310_3480312dup, NW_003871064.1:g.3480309_3480312dup, NW_003871064.1:g.3480308_3480312dup, NW_003871064.1:g.3480306_3480312dup, NW_003871064.1:g.3480304_3480312dup

Select item 14914121773.

rs1491412177 has merged into rs57899780 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 7:75935637 (GRCh38)
7:75564955 (GRCh37)
Canonical SPDI:: NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:75935619:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: POR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.281/1083 (ALSPAC)
-=0.4533/2270 (1000Genomes)
HGVS:: NC_000007.14:g.75935621GT[8], NC_000007.14:g.75935621GT[9], NC_000007.14:g.75935621GT[11], NC_000007.14:g.75935621GT[12], NC_000007.14:g.75935621GT[13], NC_000007.14:g.75935621GT[14], NC_000007.14:g.75935621GT[15], NC_000007.14:g.75935621GT[16], NC_000007.14:g.75935621GT[17], NC_000007.14:g.75935621GT[18], NC_000007.14:g.75935621GT[19], NC_000007.14:g.75935621GT[20], NC_000007.14:g.75935621GT[21], NC_000007.14:g.75935621GT[22], NC_000007.14:g.75935621GT[23], NC_000007.14:g.75935621GT[24], NC_000007.14:g.75935621GT[26], NC_000007.14:g.75935621GT[27], NC_000007.14:g.75935621GT[28], NC_000007.14:g.75935621GT[29], NC_000007.14:g.75935621GT[30], NC_000007.14:g.75935621GT[31], NC_000007.14:g.75935621GT[32], NC_000007.14:g.75935621GT[33], NC_000007.14:g.75935621GT[34], NC_000007.13:g.75564939GT[8], NC_000007.13:g.75564939GT[9], NC_000007.13:g.75564939GT[11], NC_000007.13:g.75564939GT[12], NC_000007.13:g.75564939GT[13], NC_000007.13:g.75564939GT[14], NC_000007.13:g.75564939GT[15], NC_000007.13:g.75564939GT[16], NC_000007.13:g.75564939GT[17], NC_000007.13:g.75564939GT[18], NC_000007.13:g.75564939GT[19], NC_000007.13:g.75564939GT[20], NC_000007.13:g.75564939GT[21], NC_000007.13:g.75564939GT[22], NC_000007.13:g.75564939GT[23], NC_000007.13:g.75564939GT[24], NC_000007.13:g.75564939GT[26], NC_000007.13:g.75564939GT[27], NC_000007.13:g.75564939GT[28], NC_000007.13:g.75564939GT[29], NC_000007.13:g.75564939GT[30], NC_000007.13:g.75564939GT[31], NC_000007.13:g.75564939GT[32], NC_000007.13:g.75564939GT[33], NC_000007.13:g.75564939GT[34], NG_008930.1:g.25520GT[8], NG_008930.1:g.25520GT[9], NG_008930.1:g.25520GT[11], NG_008930.1:g.25520GT[12], NG_008930.1:g.25520GT[13], NG_008930.1:g.25520GT[14], NG_008930.1:g.25520GT[15], NG_008930.1:g.25520GT[16], NG_008930.1:g.25520GT[17], NG_008930.1:g.25520GT[18], NG_008930.1:g.25520GT[19], NG_008930.1:g.25520GT[20], NG_008930.1:g.25520GT[21], NG_008930.1:g.25520GT[22], NG_008930.1:g.25520GT[23], NG_008930.1:g.25520GT[24], NG_008930.1:g.25520GT[26], NG_008930.1:g.25520GT[27], NG_008930.1:g.25520GT[28], NG_008930.1:g.25520GT[29], NG_008930.1:g.25520GT[30], NG_008930.1:g.25520GT[31], NG_008930.1:g.25520GT[32], NG_008930.1:g.25520GT[33], NG_008930.1:g.25520GT[34], NW_003871064.1:g.3464857GT[8], NW_003871064.1:g.3464857GT[9], NW_003871064.1:g.3464857GT[11], NW_003871064.1:g.3464857GT[12], NW_003871064.1:g.3464857GT[13], NW_003871064.1:g.3464857GT[14], NW_003871064.1:g.3464857GT[15], NW_003871064.1:g.3464857GT[16], NW_003871064.1:g.3464857GT[17], NW_003871064.1:g.3464857GT[18], NW_003871064.1:g.3464857GT[19], NW_003871064.1:g.3464857GT[20], NW_003871064.1:g.3464857GT[21], NW_003871064.1:g.3464857GT[22], NW_003871064.1:g.3464857GT[23], NW_003871064.1:g.3464857GT[24], NW_003871064.1:g.3464857GT[26], NW_003871064.1:g.3464857GT[27], NW_003871064.1:g.3464857GT[28], NW_003871064.1:g.3464857GT[29], NW_003871064.1:g.3464857GT[30], NW_003871064.1:g.3464857GT[31], NW_003871064.1:g.3464857GT[32], NW_003871064.1:g.3464857GT[33], NW_003871064.1:g.3464857GT[34]

Select item 14913816304.

rs1491381630 has merged into rs60963260 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAAAA>-,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 [Show Flanks]
Chromosome:: 7:75912216 (GRCh38)
7:75541534 (GRCh37)
Canonical SPDI:: NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:75912207:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC124901680 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000007.14:g.75912216_75912239del, NC_000007.14:g.75912219_75912239del, NC_000007.14:g.75912220_75912239del, NC_000007.14:g.75912221_75912239del, NC_000007.14:g.75912222_75912239del, NC_000007.14:g.75912223_75912239del, NC_000007.14:g.75912224_75912239del, NC_000007.14:g.75912225_75912239del, NC_000007.14:g.75912226_75912239del, NC_000007.14:g.75912227_75912239del, NC_000007.14:g.75912228_75912239del, NC_000007.14:g.75912229_75912239del, NC_000007.14:g.75912230_75912239del, NC_000007.14:g.75912231_75912239del, NC_000007.14:g.75912232_75912239del, NC_000007.14:g.75912233_75912239del, NC_000007.14:g.75912234_75912239del, NC_000007.14:g.75912235_75912239del, NC_000007.14:g.75912236_75912239del, NC_000007.14:g.75912237_75912239del, NC_000007.14:g.75912238_75912239del, NC_000007.14:g.75912239del, NC_000007.14:g.75912239dup, NC_000007.14:g.75912238_75912239dup, NC_000007.14:g.75912237_75912239dup, NC_000007.14:g.75912236_75912239dup, NC_000007.14:g.75912235_75912239dup, NC_000007.14:g.75912234_75912239dup, NC_000007.14:g.75912233_75912239dup, NC_000007.14:g.75912232_75912239dup, NC_000007.14:g.75912231_75912239dup, NC_000007.14:g.75912230_75912239dup, NC_000007.13:g.75541534_75541557del, NC_000007.13:g.75541537_75541557del, NC_000007.13:g.75541538_75541557del, NC_000007.13:g.75541539_75541557del, NC_000007.13:g.75541540_75541557del, NC_000007.13:g.75541541_75541557del, NC_000007.13:g.75541542_75541557del, NC_000007.13:g.75541543_75541557del, NC_000007.13:g.75541544_75541557del, NC_000007.13:g.75541545_75541557del, NC_000007.13:g.75541546_75541557del, NC_000007.13:g.75541547_75541557del, NC_000007.13:g.75541548_75541557del, NC_000007.13:g.75541549_75541557del, NC_000007.13:g.75541550_75541557del, NC_000007.13:g.75541551_75541557del, NC_000007.13:g.75541552_75541557del, NC_000007.13:g.75541553_75541557del, NC_000007.13:g.75541554_75541557del, NC_000007.13:g.75541555_75541557del, NC_000007.13:g.75541556_75541557del, NC_000007.13:g.75541557del, NC_000007.13:g.75541557dup, NC_000007.13:g.75541556_75541557dup, NC_000007.13:g.75541555_75541557dup, NC_000007.13:g.75541554_75541557dup, NC_000007.13:g.75541553_75541557dup, NC_000007.13:g.75541552_75541557dup, NC_000007.13:g.75541551_75541557dup, NC_000007.13:g.75541550_75541557dup, NC_000007.13:g.75541549_75541557dup, NC_000007.13:g.75541548_75541557dup, NG_008930.1:g.2115_2138del, NG_008930.1:g.2118_2138del, NG_008930.1:g.2119_2138del, NG_008930.1:g.2120_2138del, NG_008930.1:g.2121_2138del, NG_008930.1:g.2122_2138del, NG_008930.1:g.2123_2138del, NG_008930.1:g.2124_2138del, NG_008930.1:g.2125_2138del, NG_008930.1:g.2126_2138del, NG_008930.1:g.2127_2138del, NG_008930.1:g.2128_2138del, NG_008930.1:g.2129_2138del, NG_008930.1:g.2130_2138del, NG_008930.1:g.2131_2138del, NG_008930.1:g.2132_2138del, NG_008930.1:g.2133_2138del, NG_008930.1:g.2134_2138del, NG_008930.1:g.2135_2138del, NG_008930.1:g.2136_2138del, NG_008930.1:g.2137_2138del, NG_008930.1:g.2138del, NG_008930.1:g.2138dup, NG_008930.1:g.2137_2138dup, NG_008930.1:g.2136_2138dup, NG_008930.1:g.2135_2138dup, NG_008930.1:g.2134_2138dup, NG_008930.1:g.2133_2138dup, NG_008930.1:g.2132_2138dup, NG_008930.1:g.2131_2138dup, NG_008930.1:g.2130_2138dup, NG_008930.1:g.2129_2138dup, NW_003871064.1:g.3441452_3441475del, NW_003871064.1:g.3441455_3441475del, NW_003871064.1:g.3441456_3441475del, NW_003871064.1:g.3441457_3441475del, NW_003871064.1:g.3441458_3441475del, NW_003871064.1:g.3441459_3441475del, NW_003871064.1:g.3441460_3441475del, NW_003871064.1:g.3441461_3441475del, NW_003871064.1:g.3441462_3441475del, NW_003871064.1:g.3441463_3441475del, NW_003871064.1:g.3441464_3441475del, NW_003871064.1:g.3441465_3441475del, NW_003871064.1:g.3441466_3441475del, NW_003871064.1:g.3441467_3441475del, NW_003871064.1:g.3441468_3441475del, NW_003871064.1:g.3441469_3441475del, NW_003871064.1:g.3441470_3441475del, NW_003871064.1:g.3441471_3441475del, NW_003871064.1:g.3441472_3441475del, NW_003871064.1:g.3441473_3441475del, NW_003871064.1:g.3441474_3441475del, NW_003871064.1:g.3441475del, NW_003871064.1:g.3441475dup, NW_003871064.1:g.3441474_3441475dup, NW_003871064.1:g.3441473_3441475dup, NW_003871064.1:g.3441472_3441475dup, NW_003871064.1:g.3441471_3441475dup, NW_003871064.1:g.3441470_3441475dup, NW_003871064.1:g.3441469_3441475dup, NW_003871064.1:g.3441468_3441475dup, NW_003871064.1:g.3441467_3441475dup, NW_003871064.1:g.3441466_3441475dup

Select item 14913543795.

rs1491354379 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 7:75935619 (GRCh38)
7:75564937 (GRCh37)
Canonical SPDI:: NC_000007.14:75935618:TT:
Gene:: POR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00037/6 (ALFA)
-=0.00004/1 (TOMMO)
-=0.005/3 (NorthernSweden)
-=0.00663/658 (GnomAD)
HGVS:: NC_000007.14:g.75935619_75935620del, NC_000007.13:g.75564937_75564938del, NG_008930.1:g.25518_25519del, NW_003871064.1:g.3464855_3464856del

Select item 14913426326.

rs1491342632 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 7:75951076 (GRCh38)
7:75580394 (GRCh37)
Canonical SPDI:: NC_000007.14:75951075:CG:
Gene:: POR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.75951076_75951077del, NC_000007.13:g.75580394_75580395del, NG_008930.1:g.40975_40976del, NW_003871064.1:g.3480312_3480313del

Select item 14913077947.

rs1491307794 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 7:75934580 (GRCh38)
7:75563898 (GRCh37)
Canonical SPDI:: NC_000007.14:75934579:AAAAAAA:AAAAAA,NC_000007.14:75934579:AAAAAAA:AAAAAAAA
Gene:: POR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000007.14:g.75934586del, NC_000007.14:g.75934586dup, NC_000007.13:g.75563904del, NC_000007.13:g.75563904dup, NG_008930.1:g.24485del, NG_008930.1:g.24485dup, NW_003871064.1:g.3463822del, NW_003871064.1:g.3463822dup

Select item 14912940898.

rs1491294089 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,CCCCCCCAA,CCG,CG,T [Show Flanks]
Chromosome:: 7:75951076 (GRCh38)
7:75580395 (GRCh37)
Canonical SPDI:: NC_000007.14:75951076::A,NC_000007.14:75951076::CCCCCCCAA,NC_000007.14:75951076::CCG,NC_000007.14:75951076::CG,NC_000007.14:75951076::T
Gene:: POR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CG=0./0 (ALFA)
CCCCCCCAA=0.00002/1 (GnomAD)
HGVS:: NC_000007.14:g.75951076_75951077insA, NC_000007.14:g.75951076_75951077insCCCCCCCAA, NC_000007.14:g.75951076_75951077insCCG, NC_000007.14:g.75951076_75951077insCG, NC_000007.14:g.75951076_75951077insT, NC_000007.13:g.75580394_75580395insA, NC_000007.13:g.75580394_75580395insCCCCCCCAA, NC_000007.13:g.75580394_75580395insCCG, NC_000007.13:g.75580394_75580395insCG, NC_000007.13:g.75580394_75580395insT, NG_008930.1:g.40975_40976insA, NG_008930.1:g.40975_40976insCCCCCCCAA, NG_008930.1:g.40975_40976insCCG, NG_008930.1:g.40975_40976insCG, NG_008930.1:g.40975_40976insT, NW_003871064.1:g.3480312_3480313insA, NW_003871064.1:g.3480312_3480313insCCCCCCCAA, NW_003871064.1:g.3480312_3480313insCCG, NW_003871064.1:g.3480312_3480313insCG, NW_003871064.1:g.3480312_3480313insT

Select item 14912113749.

rs1491211374 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:75934579 (GRCh38)
7:75563897 (GRCh37)
Canonical SPDI:: NC_000007.14:75934578:GA:
Gene:: POR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.75934579_75934580del, NC_000007.13:g.75563897_75563898del, NG_008930.1:g.24478_24479del, NW_003871064.1:g.3463815_3463816del

Select item 149108061810.

rs1491080618 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAT [Show Flanks]
Chromosome:: 7:75987081 (GRCh38)
7:75616400 (GRCh37)
Canonical SPDI:: NC_000007.14:75987081:TGAT:TGATGAT
Gene:: POR (Varview), TMEM120A (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,inframe_insertion,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGATGAT=0.000071/1 (ALFA)
TGA=0.000007/1 (GnomAD)
TGA=0.000023/6 (TOPMED)
HGVS:: NC_000007.14:g.75987083_75987085dup, NC_000007.13:g.75616401_75616403dup, NG_008930.1:g.76982_76984dup, NW_003871064.1:g.3516319_3516321dup, NM_031925.3:c.*88_*90dup, NM_031925.2:c.*88_*90dup, NM_001363462.2:c.*246_*248dup, NM_001363462.1:c.*246_*248dup, NM_001317803.2:c.1058_1060dup, NM_001317803.1:c.1058_1060dup, NR_156695.2:n.1080_1082dup, NR_156695.1:n.1080_1082dup, XM_047420919.1:c.*184_*186dup, NP_001304732.1:p.Ile353dup

Select item 149104827311.

rs1491048273 has merged into rs71519397 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:75920068 (GRCh38)
7:75549386 (GRCh37)
Canonical SPDI:: NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75920056:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: POR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.00034/90 (TOPMED)
HGVS:: NC_000007.14:g.75920068_75920083del, NC_000007.14:g.75920069_75920083del, NC_000007.14:g.75920070_75920083del, NC_000007.14:g.75920071_75920083del, NC_000007.14:g.75920072_75920083del, NC_000007.14:g.75920073_75920083del, NC_000007.14:g.75920074_75920083del, NC_000007.14:g.75920075_75920083del, NC_000007.14:g.75920076_75920083del, NC_000007.14:g.75920077_75920083del, NC_000007.14:g.75920078_75920083del, NC_000007.14:g.75920079_75920083del, NC_000007.14:g.75920080_75920083del, NC_000007.14:g.75920081_75920083del, NC_000007.14:g.75920082_75920083del, NC_000007.14:g.75920083del, NC_000007.14:g.75920083dup, NC_000007.14:g.75920082_75920083dup, NC_000007.14:g.75920081_75920083dup, NC_000007.14:g.75920080_75920083dup, NC_000007.14:g.75920079_75920083dup, NC_000007.14:g.75920078_75920083dup, NC_000007.14:g.75920077_75920083dup, NC_000007.14:g.75920076_75920083dup, NC_000007.14:g.75920083_75920084insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.75920083_75920084insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.75549386_75549401del, NC_000007.13:g.75549387_75549401del, NC_000007.13:g.75549388_75549401del, NC_000007.13:g.75549389_75549401del, NC_000007.13:g.75549390_75549401del, NC_000007.13:g.75549391_75549401del, NC_000007.13:g.75549392_75549401del, NC_000007.13:g.75549393_75549401del, NC_000007.13:g.75549394_75549401del, NC_000007.13:g.75549395_75549401del, NC_000007.13:g.75549396_75549401del, NC_000007.13:g.75549397_75549401del, NC_000007.13:g.75549398_75549401del, NC_000007.13:g.75549399_75549401del, NC_000007.13:g.75549400_75549401del, NC_000007.13:g.75549401del, NC_000007.13:g.75549401dup, NC_000007.13:g.75549400_75549401dup, NC_000007.13:g.75549399_75549401dup, NC_000007.13:g.75549398_75549401dup, NC_000007.13:g.75549397_75549401dup, NC_000007.13:g.75549396_75549401dup, NC_000007.13:g.75549395_75549401dup, NC_000007.13:g.75549394_75549401dup, NC_000007.13:g.75549401_75549402insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.75549401_75549402insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008930.1:g.9967_9982del, NG_008930.1:g.9968_9982del, NG_008930.1:g.9969_9982del, NG_008930.1:g.9970_9982del, NG_008930.1:g.9971_9982del, NG_008930.1:g.9972_9982del, NG_008930.1:g.9973_9982del, NG_008930.1:g.9974_9982del, NG_008930.1:g.9975_9982del, NG_008930.1:g.9976_9982del, NG_008930.1:g.9977_9982del, NG_008930.1:g.9978_9982del, NG_008930.1:g.9979_9982del, NG_008930.1:g.9980_9982del, NG_008930.1:g.9981_9982del, NG_008930.1:g.9982del, NG_008930.1:g.9982dup, NG_008930.1:g.9981_9982dup, NG_008930.1:g.9980_9982dup, NG_008930.1:g.9979_9982dup, NG_008930.1:g.9978_9982dup, NG_008930.1:g.9977_9982dup, NG_008930.1:g.9976_9982dup, NG_008930.1:g.9975_9982dup, NG_008930.1:g.9982_9983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008930.1:g.9982_9983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003871064.1:g.3449304_3449319del, NW_003871064.1:g.3449305_3449319del, NW_003871064.1:g.3449306_3449319del, NW_003871064.1:g.3449307_3449319del, NW_003871064.1:g.3449308_3449319del, NW_003871064.1:g.3449309_3449319del, NW_003871064.1:g.3449310_3449319del, NW_003871064.1:g.3449311_3449319del, NW_003871064.1:g.3449312_3449319del, NW_003871064.1:g.3449313_3449319del, NW_003871064.1:g.3449314_3449319del, NW_003871064.1:g.3449315_3449319del, NW_003871064.1:g.3449316_3449319del, NW_003871064.1:g.3449317_3449319del, NW_003871064.1:g.3449318_3449319del, NW_003871064.1:g.3449319del, NW_003871064.1:g.3449319dup, NW_003871064.1:g.3449318_3449319dup, NW_003871064.1:g.3449317_3449319dup, NW_003871064.1:g.3449316_3449319dup, NW_003871064.1:g.3449315_3449319dup, NW_003871064.1:g.3449314_3449319dup, NW_003871064.1:g.3449313_3449319dup, NW_003871064.1:g.3449312_3449319dup, NW_003871064.1:g.3449319_3449320insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003871064.1:g.3449319_3449320insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149103886212.

rs1491038862 has merged into rs3043448 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:75939551 (GRCh38)
7:75568869 (GRCh37)
Canonical SPDI:: NC_000007.14:75939536:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:75939536:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:75939536:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:75939536:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:75939536:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:75939536:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:75939536:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:75939536:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75939536:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75939536:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75939536:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75939536:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75939536:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75939536:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75939536:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75939536:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75939536:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: POR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000007.14:g.75939551_75939558del, NC_000007.14:g.75939552_75939558del, NC_000007.14:g.75939553_75939558del, NC_000007.14:g.75939554_75939558del, NC_000007.14:g.75939555_75939558del, NC_000007.14:g.75939556_75939558del, NC_000007.14:g.75939557_75939558del, NC_000007.14:g.75939558del, NC_000007.14:g.75939558dup, NC_000007.14:g.75939557_75939558dup, NC_000007.14:g.75939556_75939558dup, NC_000007.14:g.75939555_75939558dup, NC_000007.14:g.75939554_75939558dup, NC_000007.14:g.75939553_75939558dup, NC_000007.14:g.75939552_75939558dup, NC_000007.14:g.75939558_75939559insTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.75939558_75939559insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.75568869_75568876del, NC_000007.13:g.75568870_75568876del, NC_000007.13:g.75568871_75568876del, NC_000007.13:g.75568872_75568876del, NC_000007.13:g.75568873_75568876del, NC_000007.13:g.75568874_75568876del, NC_000007.13:g.75568875_75568876del, NC_000007.13:g.75568876del, NC_000007.13:g.75568876dup, NC_000007.13:g.75568875_75568876dup, NC_000007.13:g.75568874_75568876dup, NC_000007.13:g.75568873_75568876dup, NC_000007.13:g.75568872_75568876dup, NC_000007.13:g.75568871_75568876dup, NC_000007.13:g.75568870_75568876dup, NC_000007.13:g.75568876_75568877insTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.75568876_75568877insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008930.1:g.29450_29457del, NG_008930.1:g.29451_29457del, NG_008930.1:g.29452_29457del, NG_008930.1:g.29453_29457del, NG_008930.1:g.29454_29457del, NG_008930.1:g.29455_29457del, NG_008930.1:g.29456_29457del, NG_008930.1:g.29457del, NG_008930.1:g.29457dup, NG_008930.1:g.29456_29457dup, NG_008930.1:g.29455_29457dup, NG_008930.1:g.29454_29457dup, NG_008930.1:g.29453_29457dup, NG_008930.1:g.29452_29457dup, NG_008930.1:g.29451_29457dup, NG_008930.1:g.29457_29458insTTTTTTTTTTTTTTTTTTTTTTT, NG_008930.1:g.29457_29458insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003871064.1:g.3468787_3468794del, NW_003871064.1:g.3468788_3468794del, NW_003871064.1:g.3468789_3468794del, NW_003871064.1:g.3468790_3468794del, NW_003871064.1:g.3468791_3468794del, NW_003871064.1:g.3468792_3468794del, NW_003871064.1:g.3468793_3468794del, NW_003871064.1:g.3468794del, NW_003871064.1:g.3468794dup, NW_003871064.1:g.3468793_3468794dup, NW_003871064.1:g.3468792_3468794dup, NW_003871064.1:g.3468791_3468794dup, NW_003871064.1:g.3468790_3468794dup, NW_003871064.1:g.3468789_3468794dup, NW_003871064.1:g.3468788_3468794dup, NW_003871064.1:g.3468794_3468795insTTTTTTTTTTTTTTTTTTTTTTT, NW_003871064.1:g.3468794_3468795insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149098670413.

rs1490986704 has merged into rs1197806624 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 7:75925530 (GRCh38)
7:75554848 (GRCh37)
Canonical SPDI:: NC_000007.14:75925529:TTTTTTTT:TTTTTTT,NC_000007.14:75925529:TTTTTTTT:TTTTTTTTT
Gene:: POR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000057/8 (GnomAD)
HGVS:: NC_000007.14:g.75925537del, NC_000007.14:g.75925537dup, NC_000007.13:g.75554855del, NC_000007.13:g.75554855dup, NG_008930.1:g.15436del, NG_008930.1:g.15436dup, NW_003871064.1:g.3454773del, NW_003871064.1:g.3454773dup

Select item 149091032314.

rs1490910323 has merged into rs142864869 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAATAATAATA>-,ATA,ATAATA,ATAATAATA,ATAATAATAATAATA,ATAATAATAATAATAATA,ATAATAATAATAATAATAATA,ATAATAATAATAATAATAATAATA,ATAATAATAATAATAATAATAATAATA,ATAATAATAATAATAATAATAATAATAATAATA [Show Flanks]
Chromosome:: 7:75960309 (GRCh38)
7:75589627 (GRCh37)
Canonical SPDI:: NC_000007.14:75960292:AATAATAATAATAATAATAATAATAATA:AATAATAATAATAATA,NC_000007.14:75960292:AATAATAATAATAATAATAATAATAATA:AATAATAATAATAATAATA,NC_000007.14:75960292:AATAATAATAATAATAATAATAATAATA:AATAATAATAATAATAATAATA,NC_000007.14:75960292:AATAATAATAATAATAATAATAATAATA:AATAATAATAATAATAATAATAATA,NC_000007.14:75960292:AATAATAATAATAATAATAATAATAATA:AATAATAATAATAATAATAATAATAATAATA,NC_000007.14:75960292:AATAATAATAATAATAATAATAATAATA:AATAATAATAATAATAATAATAATAATAATAATA,NC_000007.14:75960292:AATAATAATAATAATAATAATAATAATA:AATAATAATAATAATAATAATAATAATAATAATAATA,NC_000007.14:75960292:AATAATAATAATAATAATAATAATAATA:AATAATAATAATAATAATAATAATAATAATAATAATAATA,NC_000007.14:75960292:AATAATAATAATAATAATAATAATAATA:AATAATAATAATAATAATAATAATAATAATAATAATAATAATA,NC_000007.14:75960292:AATAATAATAATAATAATAATAATAATA:AATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATA
Gene:: POR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATAATAATAATAATAATA=0./0 (ALFA)
HGVS:: NC_000007.14:g.75960294ATA[5], NC_000007.14:g.75960294ATA[6], NC_000007.14:g.75960294ATA[7], NC_000007.14:g.75960294ATA[8], NC_000007.14:g.75960294ATA[10], NC_000007.14:g.75960294ATA[11], NC_000007.14:g.75960294ATA[12], NC_000007.14:g.75960294ATA[13], NC_000007.14:g.75960294ATA[14], NC_000007.14:g.75960294ATA[16], NC_000007.13:g.75589612ATA[5], NC_000007.13:g.75589612ATA[6], NC_000007.13:g.75589612ATA[7], NC_000007.13:g.75589612ATA[8], NC_000007.13:g.75589612ATA[10], NC_000007.13:g.75589612ATA[11], NC_000007.13:g.75589612ATA[12], NC_000007.13:g.75589612ATA[13], NC_000007.13:g.75589612ATA[14], NC_000007.13:g.75589612ATA[16], NG_008930.1:g.50193ATA[5], NG_008930.1:g.50193ATA[6], NG_008930.1:g.50193ATA[7], NG_008930.1:g.50193ATA[8], NG_008930.1:g.50193ATA[10], NG_008930.1:g.50193ATA[11], NG_008930.1:g.50193ATA[12], NG_008930.1:g.50193ATA[13], NG_008930.1:g.50193ATA[14], NG_008930.1:g.50193ATA[16], NW_003871064.1:g.3489530ATA[5], NW_003871064.1:g.3489530ATA[6], NW_003871064.1:g.3489530ATA[7], NW_003871064.1:g.3489530ATA[8], NW_003871064.1:g.3489530ATA[10], NW_003871064.1:g.3489530ATA[11], NW_003871064.1:g.3489530ATA[12], NW_003871064.1:g.3489530ATA[13], NW_003871064.1:g.3489530ATA[14], NW_003871064.1:g.3489530ATA[16]

Select item 149086677515.

rs1490866775 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:75910970 (GRCh38)
7:75540288 (GRCh37)
Canonical SPDI:: NC_000007.14:75910966:AGAGA:AGA
Gene:: LOC124901680 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0.00081/15 (ALFA)
-=0.000144/38 (TOPMED)
-=0.000193/27 (GnomAD)
-=0.001786/8 (Estonian)
HGVS:: NC_000007.14:g.75910968GA[1], NC_000007.13:g.75540286GA[1], NG_008930.1:g.867GA[1], NW_003871064.1:g.3440204GA[1]

Select item 149086180716.

rs1490861807 has merged into rs35274225 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:75973685 (GRCh38)
7:75603003 (GRCh37)
Canonical SPDI:: NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:75973674:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: POR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0./0 (TWINSUK)
-=0.0003/1 (ALSPAC)
HGVS:: NC_000007.14:g.75973685_75973699del, NC_000007.14:g.75973687_75973699del, NC_000007.14:g.75973688_75973699del, NC_000007.14:g.75973689_75973699del, NC_000007.14:g.75973690_75973699del, NC_000007.14:g.75973692_75973699del, NC_000007.14:g.75973694_75973699del, NC_000007.14:g.75973695_75973699del, NC_000007.14:g.75973696_75973699del, NC_000007.14:g.75973697_75973699del, NC_000007.14:g.75973698_75973699del, NC_000007.14:g.75973699del, NC_000007.14:g.75973699dup, NC_000007.14:g.75973698_75973699dup, NC_000007.14:g.75973697_75973699dup, NC_000007.14:g.75973696_75973699dup, NC_000007.14:g.75973695_75973699dup, NC_000007.14:g.75973694_75973699dup, NC_000007.14:g.75973692_75973699dup, NC_000007.14:g.75973691_75973699dup, NC_000007.14:g.75973690_75973699dup, NC_000007.14:g.75973689_75973699dup, NC_000007.14:g.75973685_75973699dup, NC_000007.14:g.75973683_75973699dup, NC_000007.13:g.75603003_75603017del, NC_000007.13:g.75603005_75603017del, NC_000007.13:g.75603006_75603017del, NC_000007.13:g.75603007_75603017del, NC_000007.13:g.75603008_75603017del, NC_000007.13:g.75603010_75603017del, NC_000007.13:g.75603012_75603017del, NC_000007.13:g.75603013_75603017del, NC_000007.13:g.75603014_75603017del, NC_000007.13:g.75603015_75603017del, NC_000007.13:g.75603016_75603017del, NC_000007.13:g.75603017del, NC_000007.13:g.75603017dup, NC_000007.13:g.75603016_75603017dup, NC_000007.13:g.75603015_75603017dup, NC_000007.13:g.75603014_75603017dup, NC_000007.13:g.75603013_75603017dup, NC_000007.13:g.75603012_75603017dup, NC_000007.13:g.75603010_75603017dup, NC_000007.13:g.75603009_75603017dup, NC_000007.13:g.75603008_75603017dup, NC_000007.13:g.75603007_75603017dup, NC_000007.13:g.75603003_75603017dup, NC_000007.13:g.75603001_75603017dup, NG_008930.1:g.63584_63598del, NG_008930.1:g.63586_63598del, NG_008930.1:g.63587_63598del, NG_008930.1:g.63588_63598del, NG_008930.1:g.63589_63598del, NG_008930.1:g.63591_63598del, NG_008930.1:g.63593_63598del, NG_008930.1:g.63594_63598del, NG_008930.1:g.63595_63598del, NG_008930.1:g.63596_63598del, NG_008930.1:g.63597_63598del, NG_008930.1:g.63598del, NG_008930.1:g.63598dup, NG_008930.1:g.63597_63598dup, NG_008930.1:g.63596_63598dup, NG_008930.1:g.63595_63598dup, NG_008930.1:g.63594_63598dup, NG_008930.1:g.63593_63598dup, NG_008930.1:g.63591_63598dup, NG_008930.1:g.63590_63598dup, NG_008930.1:g.63589_63598dup, NG_008930.1:g.63588_63598dup, NG_008930.1:g.63584_63598dup, NG_008930.1:g.63582_63598dup, NW_003871064.1:g.3502921_3502935del, NW_003871064.1:g.3502923_3502935del, NW_003871064.1:g.3502924_3502935del, NW_003871064.1:g.3502925_3502935del, NW_003871064.1:g.3502926_3502935del, NW_003871064.1:g.3502928_3502935del, NW_003871064.1:g.3502930_3502935del, NW_003871064.1:g.3502931_3502935del, NW_003871064.1:g.3502932_3502935del, NW_003871064.1:g.3502933_3502935del, NW_003871064.1:g.3502934_3502935del, NW_003871064.1:g.3502935del, NW_003871064.1:g.3502935dup, NW_003871064.1:g.3502934_3502935dup, NW_003871064.1:g.3502933_3502935dup, NW_003871064.1:g.3502932_3502935dup, NW_003871064.1:g.3502931_3502935dup, NW_003871064.1:g.3502930_3502935dup, NW_003871064.1:g.3502928_3502935dup, NW_003871064.1:g.3502927_3502935dup, NW_003871064.1:g.3502926_3502935dup, NW_003871064.1:g.3502925_3502935dup, NW_003871064.1:g.3502921_3502935dup, NW_003871064.1:g.3502919_3502935dup

Select item 149084628017.

rs1490846280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:75974545 (GRCh38)
7:75603863 (GRCh37)
Canonical SPDI:: NC_000007.14:75974544:G:A,NC_000007.14:75974544:G:T
Gene:: POR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00022/4 (GnomAD)
T=0.04317/709 (TOMMO)
T=0.15284/446 (KOREAN)
HGVS:: NC_000007.14:g.75974545G>A, NC_000007.14:g.75974545G>T, NC_000007.13:g.75603863G>A, NC_000007.13:g.75603863G>T, NG_008930.1:g.64444G>A, NG_008930.1:g.64444G>T, NW_003871064.1:g.3503781G>A, NW_003871064.1:g.3503781G>T

Select item 149081722418.

rs1490817224 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:75947041 (GRCh38)
7:75576359 (GRCh37)
Canonical SPDI:: NC_000007.14:75947040:C:T
Gene:: POR (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.75947041C>T, NC_000007.13:g.75576359C>T, NG_008930.1:g.36940C>T, NM_001382658.3:c.-217C>T, NM_001382658.2:c.-217C>T, NM_001382658.1:c.-208C>T, NW_003871064.1:g.3476277C>T

Select item 149071237419.

rs1490712374 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:75932308 (GRCh38)
7:75561626 (GRCh37)
Canonical SPDI:: NC_000007.14:75932307:G:A
Gene:: POR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.75932308G>A, NC_000007.13:g.75561626G>A, NG_008930.1:g.22207G>A, NW_003871064.1:g.3461544G>A

Select item 149066975320.

rs1490669753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:75966254 (GRCh38)
7:75595572 (GRCh37)
Canonical SPDI:: NC_000007.14:75966253:G:A,NC_000007.14:75966253:G:C
Gene:: POR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.75966254G>A, NC_000007.14:g.75966254G>C, NC_000007.13:g.75595572G>A, NC_000007.13:g.75595572G>C, NG_008930.1:g.56153G>A, NG_008930.1:g.56153G>C, NW_003871064.1:g.3495490G>A, NW_003871064.1:g.3495490G>C

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