SNP Links for Gene (Select 8837) - SNP

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Select item 14915382001.

rs1491538200 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:201133928 (GRCh38)
2:201998651 (GRCh37)
Canonical SPDI:: NC_000002.12:201133927:CA:
Gene:: CFLAR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.201133928_201133929del, NC_000002.11:g.201998651_201998652del, NG_029005.1:g.22775_22776del

Select item 14915151292.

rs1491515129 has merged into rs1165868646 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:201114062 (GRCh38)
2:201978785 (GRCh37)
Canonical SPDI:: NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201114046:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC105373836 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.201114062_201114078del, NC_000002.12:g.201114063_201114078del, NC_000002.12:g.201114064_201114078del, NC_000002.12:g.201114065_201114078del, NC_000002.12:g.201114066_201114078del, NC_000002.12:g.201114067_201114078del, NC_000002.12:g.201114068_201114078del, NC_000002.12:g.201114069_201114078del, NC_000002.12:g.201114070_201114078del, NC_000002.12:g.201114071_201114078del, NC_000002.12:g.201114072_201114078del, NC_000002.12:g.201114073_201114078del, NC_000002.12:g.201114074_201114078del, NC_000002.12:g.201114075_201114078del, NC_000002.12:g.201114076_201114078del, NC_000002.12:g.201114077_201114078del, NC_000002.12:g.201114078del, NC_000002.12:g.201114078dup, NC_000002.12:g.201114077_201114078dup, NC_000002.12:g.201114076_201114078dup, NC_000002.12:g.201114074_201114078dup, NC_000002.12:g.201114072_201114078dup, NC_000002.12:g.201114071_201114078dup, NC_000002.11:g.201978785_201978801del, NC_000002.11:g.201978786_201978801del, NC_000002.11:g.201978787_201978801del, NC_000002.11:g.201978788_201978801del, NC_000002.11:g.201978789_201978801del, NC_000002.11:g.201978790_201978801del, NC_000002.11:g.201978791_201978801del, NC_000002.11:g.201978792_201978801del, NC_000002.11:g.201978793_201978801del, NC_000002.11:g.201978794_201978801del, NC_000002.11:g.201978795_201978801del, NC_000002.11:g.201978796_201978801del, NC_000002.11:g.201978797_201978801del, NC_000002.11:g.201978798_201978801del, NC_000002.11:g.201978799_201978801del, NC_000002.11:g.201978800_201978801del, NC_000002.11:g.201978801del, NC_000002.11:g.201978801dup, NC_000002.11:g.201978800_201978801dup, NC_000002.11:g.201978799_201978801dup, NC_000002.11:g.201978797_201978801dup, NC_000002.11:g.201978795_201978801dup, NC_000002.11:g.201978794_201978801dup, NG_029005.1:g.2909_2925del, NG_029005.1:g.2910_2925del, NG_029005.1:g.2911_2925del, NG_029005.1:g.2912_2925del, NG_029005.1:g.2913_2925del, NG_029005.1:g.2914_2925del, NG_029005.1:g.2915_2925del, NG_029005.1:g.2916_2925del, NG_029005.1:g.2917_2925del, NG_029005.1:g.2918_2925del, NG_029005.1:g.2919_2925del, NG_029005.1:g.2920_2925del, NG_029005.1:g.2921_2925del, NG_029005.1:g.2922_2925del, NG_029005.1:g.2923_2925del, NG_029005.1:g.2924_2925del, NG_029005.1:g.2925del, NG_029005.1:g.2925dup, NG_029005.1:g.2924_2925dup, NG_029005.1:g.2923_2925dup, NG_029005.1:g.2921_2925dup, NG_029005.1:g.2919_2925dup, NG_029005.1:g.2918_2925dup

Select item 14914885623.

rs1491488562 [Homo sapiens]

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

Select item 14914857654.

rs1491485765 has merged into rs35648857 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATA>-,TA,TATATA,TATATATA,TATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 2:201132444 (GRCh38)
2:201997167 (GRCh37)
Canonical SPDI:: NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:201132430:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: CFLAR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
ATAT=0.025/1 (GENOME_DK)
-=0.11219/416 (TWINSUK)
-=0.120913/466 (ALSPAC)
HGVS:: NC_000002.12:g.201132432TA[6], NC_000002.12:g.201132432TA[7], NC_000002.12:g.201132432TA[9], NC_000002.12:g.201132432TA[10], NC_000002.12:g.201132432TA[11], NC_000002.12:g.201132432TA[13], NC_000002.12:g.201132432TA[14], NC_000002.12:g.201132432TA[15], NC_000002.12:g.201132432TA[16], NC_000002.12:g.201132432TA[17], NC_000002.12:g.201132432TA[18], NC_000002.12:g.201132432TA[19], NC_000002.12:g.201132432TA[20], NC_000002.12:g.201132432TA[21], NC_000002.12:g.201132432TA[22], NC_000002.12:g.201132432TA[23], NC_000002.12:g.201132432TA[24], NC_000002.12:g.201132432TA[25], NC_000002.12:g.201132432TA[26], NC_000002.12:g.201132432TA[27], NC_000002.12:g.201132432TA[28], NC_000002.12:g.201132432TA[29], NC_000002.12:g.201132432TA[30], NC_000002.12:g.201132432TA[31], NC_000002.12:g.201132432TA[32], NC_000002.12:g.201132432TA[35], NC_000002.11:g.201997155TA[6], NC_000002.11:g.201997155TA[7], NC_000002.11:g.201997155TA[9], NC_000002.11:g.201997155TA[10], NC_000002.11:g.201997155TA[11], NC_000002.11:g.201997155TA[13], NC_000002.11:g.201997155TA[14], NC_000002.11:g.201997155TA[15], NC_000002.11:g.201997155TA[16], NC_000002.11:g.201997155TA[17], NC_000002.11:g.201997155TA[18], NC_000002.11:g.201997155TA[19], NC_000002.11:g.201997155TA[20], NC_000002.11:g.201997155TA[21], NC_000002.11:g.201997155TA[22], NC_000002.11:g.201997155TA[23], NC_000002.11:g.201997155TA[24], NC_000002.11:g.201997155TA[25], NC_000002.11:g.201997155TA[26], NC_000002.11:g.201997155TA[27], NC_000002.11:g.201997155TA[28], NC_000002.11:g.201997155TA[29], NC_000002.11:g.201997155TA[30], NC_000002.11:g.201997155TA[31], NC_000002.11:g.201997155TA[32], NC_000002.11:g.201997155TA[35], NG_029005.1:g.21279TA[6], NG_029005.1:g.21279TA[7], NG_029005.1:g.21279TA[9], NG_029005.1:g.21279TA[10], NG_029005.1:g.21279TA[11], NG_029005.1:g.21279TA[13], NG_029005.1:g.21279TA[14], NG_029005.1:g.21279TA[15], NG_029005.1:g.21279TA[16], NG_029005.1:g.21279TA[17], NG_029005.1:g.21279TA[18], NG_029005.1:g.21279TA[19], NG_029005.1:g.21279TA[20], NG_029005.1:g.21279TA[21], NG_029005.1:g.21279TA[22], NG_029005.1:g.21279TA[23], NG_029005.1:g.21279TA[24], NG_029005.1:g.21279TA[25], NG_029005.1:g.21279TA[26], NG_029005.1:g.21279TA[27], NG_029005.1:g.21279TA[28], NG_029005.1:g.21279TA[29], NG_029005.1:g.21279TA[30], NG_029005.1:g.21279TA[31], NG_029005.1:g.21279TA[32], NG_029005.1:g.21279TA[35]

Select item 14913430005.

rs1491343000 has merged into rs1267307823 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:201133939 (GRCh38)
2:201998662 (GRCh37)
Canonical SPDI:: NC_000002.12:201133928:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:201133928:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:201133928:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:201133928:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:201133928:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:201133928:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:201133928:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:201133928:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201133928:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201133928:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201133928:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201133928:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201133928:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201133928:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201133928:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201133928:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201133928:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201133928:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CFLAR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.201133939_201133952del, NC_000002.12:g.201133942_201133952del, NC_000002.12:g.201133943_201133952del, NC_000002.12:g.201133944_201133952del, NC_000002.12:g.201133946_201133952del, NC_000002.12:g.201133947_201133952del, NC_000002.12:g.201133949_201133952del, NC_000002.12:g.201133950_201133952del, NC_000002.12:g.201133951_201133952del, NC_000002.12:g.201133952del, NC_000002.12:g.201133952dup, NC_000002.12:g.201133951_201133952dup, NC_000002.12:g.201133950_201133952dup, NC_000002.12:g.201133949_201133952dup, NC_000002.12:g.201133948_201133952dup, NC_000002.12:g.201133947_201133952dup, NC_000002.12:g.201133945_201133952dup, NC_000002.12:g.201133937_201133952dup, NC_000002.11:g.201998662_201998675del, NC_000002.11:g.201998665_201998675del, NC_000002.11:g.201998666_201998675del, NC_000002.11:g.201998667_201998675del, NC_000002.11:g.201998669_201998675del, NC_000002.11:g.201998670_201998675del, NC_000002.11:g.201998672_201998675del, NC_000002.11:g.201998673_201998675del, NC_000002.11:g.201998674_201998675del, NC_000002.11:g.201998675del, NC_000002.11:g.201998675dup, NC_000002.11:g.201998674_201998675dup, NC_000002.11:g.201998673_201998675dup, NC_000002.11:g.201998672_201998675dup, NC_000002.11:g.201998671_201998675dup, NC_000002.11:g.201998670_201998675dup, NC_000002.11:g.201998668_201998675dup, NC_000002.11:g.201998660_201998675dup, NG_029005.1:g.22786_22799del, NG_029005.1:g.22789_22799del, NG_029005.1:g.22790_22799del, NG_029005.1:g.22791_22799del, NG_029005.1:g.22793_22799del, NG_029005.1:g.22794_22799del, NG_029005.1:g.22796_22799del, NG_029005.1:g.22797_22799del, NG_029005.1:g.22798_22799del, NG_029005.1:g.22799del, NG_029005.1:g.22799dup, NG_029005.1:g.22798_22799dup, NG_029005.1:g.22797_22799dup, NG_029005.1:g.22796_22799dup, NG_029005.1:g.22795_22799dup, NG_029005.1:g.22794_22799dup, NG_029005.1:g.22792_22799dup, NG_029005.1:g.22784_22799dup

Select item 14913326256.

rs1491332625 [Homo sapiens]

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

Select item 14911074697.

rs1491107469 has merged into rs771361555 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:201130363 (GRCh38)
2:201995086 (GRCh37)
Canonical SPDI:: NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CFLAR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000002.12:g.201130363_201130379del, NC_000002.12:g.201130366_201130379del, NC_000002.12:g.201130367_201130379del, NC_000002.12:g.201130368_201130379del, NC_000002.12:g.201130369_201130379del, NC_000002.12:g.201130370_201130379del, NC_000002.12:g.201130371_201130379del, NC_000002.12:g.201130372_201130379del, NC_000002.12:g.201130373_201130379del, NC_000002.12:g.201130374_201130379del, NC_000002.12:g.201130375_201130379del, NC_000002.12:g.201130376_201130379del, NC_000002.12:g.201130377_201130379del, NC_000002.12:g.201130378_201130379del, NC_000002.12:g.201130379del, NC_000002.12:g.201130379dup, NC_000002.12:g.201130378_201130379dup, NC_000002.12:g.201130377_201130379dup, NC_000002.12:g.201130376_201130379dup, NC_000002.12:g.201130375_201130379dup, NC_000002.12:g.201130374_201130379dup, NC_000002.12:g.201130373_201130379dup, NC_000002.12:g.201130372_201130379dup, NC_000002.12:g.201130371_201130379dup, NC_000002.12:g.201130370_201130379dup, NC_000002.12:g.201130369_201130379dup, NC_000002.12:g.201130368_201130379dup, NC_000002.12:g.201130367_201130379dup, NC_000002.12:g.201130366_201130379dup, NC_000002.12:g.201130365_201130379dup, NC_000002.12:g.201130364_201130379dup, NC_000002.12:g.201130363_201130379dup, NC_000002.12:g.201130362_201130379dup, NC_000002.12:g.201130361_201130379dup, NC_000002.12:g.201130360_201130379dup, NC_000002.12:g.201130359_201130379dup, NC_000002.12:g.201130358_201130379dup, NC_000002.12:g.201130379_201130380insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.201995086_201995102del, NC_000002.11:g.201995089_201995102del, NC_000002.11:g.201995090_201995102del, NC_000002.11:g.201995091_201995102del, NC_000002.11:g.201995092_201995102del, NC_000002.11:g.201995093_201995102del, NC_000002.11:g.201995094_201995102del, NC_000002.11:g.201995095_201995102del, NC_000002.11:g.201995096_201995102del, NC_000002.11:g.201995097_201995102del, NC_000002.11:g.201995098_201995102del, NC_000002.11:g.201995099_201995102del, NC_000002.11:g.201995100_201995102del, NC_000002.11:g.201995101_201995102del, NC_000002.11:g.201995102del, NC_000002.11:g.201995102dup, NC_000002.11:g.201995101_201995102dup, NC_000002.11:g.201995100_201995102dup, NC_000002.11:g.201995099_201995102dup, NC_000002.11:g.201995098_201995102dup, NC_000002.11:g.201995097_201995102dup, NC_000002.11:g.201995096_201995102dup, NC_000002.11:g.201995095_201995102dup, NC_000002.11:g.201995094_201995102dup, NC_000002.11:g.201995093_201995102dup, NC_000002.11:g.201995092_201995102dup, NC_000002.11:g.201995091_201995102dup, NC_000002.11:g.201995090_201995102dup, NC_000002.11:g.201995089_201995102dup, NC_000002.11:g.201995088_201995102dup, NC_000002.11:g.201995087_201995102dup, NC_000002.11:g.201995086_201995102dup, NC_000002.11:g.201995085_201995102dup, NC_000002.11:g.201995084_201995102dup, NC_000002.11:g.201995083_201995102dup, NC_000002.11:g.201995082_201995102dup, NC_000002.11:g.201995081_201995102dup, NC_000002.11:g.201995102_201995103insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029005.1:g.19210_19226del, NG_029005.1:g.19213_19226del, NG_029005.1:g.19214_19226del, NG_029005.1:g.19215_19226del, NG_029005.1:g.19216_19226del, NG_029005.1:g.19217_19226del, NG_029005.1:g.19218_19226del, NG_029005.1:g.19219_19226del, NG_029005.1:g.19220_19226del, NG_029005.1:g.19221_19226del, NG_029005.1:g.19222_19226del, NG_029005.1:g.19223_19226del, NG_029005.1:g.19224_19226del, NG_029005.1:g.19225_19226del, NG_029005.1:g.19226del, NG_029005.1:g.19226dup, NG_029005.1:g.19225_19226dup, NG_029005.1:g.19224_19226dup, NG_029005.1:g.19223_19226dup, NG_029005.1:g.19222_19226dup, NG_029005.1:g.19221_19226dup, NG_029005.1:g.19220_19226dup, NG_029005.1:g.19219_19226dup, NG_029005.1:g.19218_19226dup, NG_029005.1:g.19217_19226dup, NG_029005.1:g.19216_19226dup, NG_029005.1:g.19215_19226dup, NG_029005.1:g.19214_19226dup, NG_029005.1:g.19213_19226dup, NG_029005.1:g.19212_19226dup, NG_029005.1:g.19211_19226dup, NG_029005.1:g.19210_19226dup, NG_029005.1:g.19209_19226dup, NG_029005.1:g.19208_19226dup, NG_029005.1:g.19207_19226dup, NG_029005.1:g.19206_19226dup, NG_029005.1:g.19205_19226dup, NG_029005.1:g.19226_19227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14909549978.

rs1490954997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:201167438 (GRCh38)
2:202032161 (GRCh37)
Canonical SPDI:: NC_000002.12:201167437:C:T
Gene:: CFLAR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.201167438C>T, NC_000002.11:g.202032161C>T, NG_029005.1:g.56285C>T, NM_003879.7:c.*3465C>T, NM_003879.6:c.*3465C>T, NM_003879.5:c.*3465C>T, NM_001127183.4:c.*3465C>T, NM_001127183.3:c.*3465C>T, NM_001127183.2:c.*3465C>T, NM_001202516.3:c.*3465C>T, NM_001202516.2:c.*3465C>T, NM_001202516.1:c.*3465C>T, NM_001202517.3:c.*3465C>T, NM_001202517.2:c.*3465C>T, NM_001202517.1:c.*3465C>T, NM_001308042.3:c.*4358C>T, NM_001308042.2:c.*4358C>T, NM_001202519.3:c.*4358C>T, NM_001202519.2:c.*4358C>T, NM_001202519.1:c.*4358C>T, NM_001351594.2:c.*3465C>T, NM_001351594.1:c.*3465C>T, NM_001351593.2:c.*3465C>T, NM_001351593.1:c.*3465C>T, NM_001351590.2:c.*4358C>T, NM_001351590.1:c.*4358C>T, NR_147250.2:n.6119C>T, NR_147250.1:n.6179C>T, NM_001202518.2:c.*4358C>T, NM_001202518.1:c.*4358C>T, NR_147251.2:n.3133C>T, NR_147251.1:n.3193C>T, NR_147247.2:n.3101C>T, NR_147247.1:n.3161C>T, NR_147253.2:n.3001C>T, NR_147253.1:n.3226C>T, NR_147246.2:n.2962C>T, NR_147246.1:n.3022C>T, NR_147244.2:n.2852C>T, NR_147244.1:n.2912C>T, NR_147243.2:n.2820C>T, NR_147243.1:n.2880C>T, NR_147249.2:n.2683C>T, NR_147249.1:n.2743C>T, NR_147245.2:n.2294C>T, NR_147245.1:n.2354C>T, NR_147242.2:n.2258C>T, NR_147242.1:n.2318C>T, NR_147248.2:n.1987C>T, NR_147248.1:n.2047C>T, NM_001202515.1:c.*3465C>T, XR_001739013.3:n.3198C>T, XR_001739013.2:n.3196C>T, XR_001739013.1:n.3199C>T, XM_047446185.1:c.*3465C>T, XR_007083723.1:n.13494C>T, XM_047446191.1:c.*3465C>T, XR_007083713.1:n.3166C>T, XR_007083715.1:n.2969C>T, XR_007083702.1:n.2262C>T, XR_007083684.1:n.2162C>T

Select item 14909166369.

rs1490916636 has merged into rs771361555 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:201130363 (GRCh38)
2:201995086 (GRCh37)
Canonical SPDI:: NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201130353:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CFLAR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000002.12:g.201130363_201130379del, NC_000002.12:g.201130366_201130379del, NC_000002.12:g.201130367_201130379del, NC_000002.12:g.201130368_201130379del, NC_000002.12:g.201130369_201130379del, NC_000002.12:g.201130370_201130379del, NC_000002.12:g.201130371_201130379del, NC_000002.12:g.201130372_201130379del, NC_000002.12:g.201130373_201130379del, NC_000002.12:g.201130374_201130379del, NC_000002.12:g.201130375_201130379del, NC_000002.12:g.201130376_201130379del, NC_000002.12:g.201130377_201130379del, NC_000002.12:g.201130378_201130379del, NC_000002.12:g.201130379del, NC_000002.12:g.201130379dup, NC_000002.12:g.201130378_201130379dup, NC_000002.12:g.201130377_201130379dup, NC_000002.12:g.201130376_201130379dup, NC_000002.12:g.201130375_201130379dup, NC_000002.12:g.201130374_201130379dup, NC_000002.12:g.201130373_201130379dup, NC_000002.12:g.201130372_201130379dup, NC_000002.12:g.201130371_201130379dup, NC_000002.12:g.201130370_201130379dup, NC_000002.12:g.201130369_201130379dup, NC_000002.12:g.201130368_201130379dup, NC_000002.12:g.201130367_201130379dup, NC_000002.12:g.201130366_201130379dup, NC_000002.12:g.201130365_201130379dup, NC_000002.12:g.201130364_201130379dup, NC_000002.12:g.201130363_201130379dup, NC_000002.12:g.201130362_201130379dup, NC_000002.12:g.201130361_201130379dup, NC_000002.12:g.201130360_201130379dup, NC_000002.12:g.201130359_201130379dup, NC_000002.12:g.201130358_201130379dup, NC_000002.12:g.201130379_201130380insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.201995086_201995102del, NC_000002.11:g.201995089_201995102del, NC_000002.11:g.201995090_201995102del, NC_000002.11:g.201995091_201995102del, NC_000002.11:g.201995092_201995102del, NC_000002.11:g.201995093_201995102del, NC_000002.11:g.201995094_201995102del, NC_000002.11:g.201995095_201995102del, NC_000002.11:g.201995096_201995102del, NC_000002.11:g.201995097_201995102del, NC_000002.11:g.201995098_201995102del, NC_000002.11:g.201995099_201995102del, NC_000002.11:g.201995100_201995102del, NC_000002.11:g.201995101_201995102del, NC_000002.11:g.201995102del, NC_000002.11:g.201995102dup, NC_000002.11:g.201995101_201995102dup, NC_000002.11:g.201995100_201995102dup, NC_000002.11:g.201995099_201995102dup, NC_000002.11:g.201995098_201995102dup, NC_000002.11:g.201995097_201995102dup, NC_000002.11:g.201995096_201995102dup, NC_000002.11:g.201995095_201995102dup, NC_000002.11:g.201995094_201995102dup, NC_000002.11:g.201995093_201995102dup, NC_000002.11:g.201995092_201995102dup, NC_000002.11:g.201995091_201995102dup, NC_000002.11:g.201995090_201995102dup, NC_000002.11:g.201995089_201995102dup, NC_000002.11:g.201995088_201995102dup, NC_000002.11:g.201995087_201995102dup, NC_000002.11:g.201995086_201995102dup, NC_000002.11:g.201995085_201995102dup, NC_000002.11:g.201995084_201995102dup, NC_000002.11:g.201995083_201995102dup, NC_000002.11:g.201995082_201995102dup, NC_000002.11:g.201995081_201995102dup, NC_000002.11:g.201995102_201995103insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029005.1:g.19210_19226del, NG_029005.1:g.19213_19226del, NG_029005.1:g.19214_19226del, NG_029005.1:g.19215_19226del, NG_029005.1:g.19216_19226del, NG_029005.1:g.19217_19226del, NG_029005.1:g.19218_19226del, NG_029005.1:g.19219_19226del, NG_029005.1:g.19220_19226del, NG_029005.1:g.19221_19226del, NG_029005.1:g.19222_19226del, NG_029005.1:g.19223_19226del, NG_029005.1:g.19224_19226del, NG_029005.1:g.19225_19226del, NG_029005.1:g.19226del, NG_029005.1:g.19226dup, NG_029005.1:g.19225_19226dup, NG_029005.1:g.19224_19226dup, NG_029005.1:g.19223_19226dup, NG_029005.1:g.19222_19226dup, NG_029005.1:g.19221_19226dup, NG_029005.1:g.19220_19226dup, NG_029005.1:g.19219_19226dup, NG_029005.1:g.19218_19226dup, NG_029005.1:g.19217_19226dup, NG_029005.1:g.19216_19226dup, NG_029005.1:g.19215_19226dup, NG_029005.1:g.19214_19226dup, NG_029005.1:g.19213_19226dup, NG_029005.1:g.19212_19226dup, NG_029005.1:g.19211_19226dup, NG_029005.1:g.19210_19226dup, NG_029005.1:g.19209_19226dup, NG_029005.1:g.19208_19226dup, NG_029005.1:g.19207_19226dup, NG_029005.1:g.19206_19226dup, NG_029005.1:g.19205_19226dup, NG_029005.1:g.19226_19227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149088511510.

rs1490885115 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:201156889 (GRCh38)
2:202021612 (GRCh37)
Canonical SPDI:: NC_000002.12:201156888:T:G
Gene:: CFLAR (Varview), CFLAR-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.201156889T>G, NC_000002.11:g.202021612T>G, NG_029005.1:g.45736T>G

Select item 149086284111.

rs1490862841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:201133021 (GRCh38)
2:201997744 (GRCh37)
Canonical SPDI:: NC_000002.12:201133020:G:T
Gene:: CFLAR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.201133021G>T, NC_000002.11:g.201997744G>T, NG_029005.1:g.21868G>T, NM_001202518.2:c.-15G>T, NM_001202518.1:c.-15G>T

Select item 149078635512.

rs1490786355 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:201145603 (GRCh38)
2:202010326 (GRCh37)
Canonical SPDI:: NC_000002.12:201145602:A:G
Gene:: CFLAR (Varview), CFLAR-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.201145603A>G, NC_000002.11:g.202010326A>G, NG_029005.1:g.34450A>G

Select item 149077056513.

rs1490770565 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:201144469 (GRCh38)
2:202009192 (GRCh37)
Canonical SPDI:: NC_000002.12:201144468:C:T
Gene:: CFLAR (Varview), CFLAR-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.201144469C>T, NC_000002.11:g.202009192C>T, NG_029005.1:g.33316C>T

Select item 149062650114.

rs1490626501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:201159430 (GRCh38)
2:202024153 (GRCh37)
Canonical SPDI:: NC_000002.12:201159429:C:T
Gene:: CFLAR (Varview), CFLAR-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.201159430C>T, NC_000002.11:g.202024153C>T, NG_029005.1:g.48277C>T

Select item 149055339515.

rs1490553395 [Homo sapiens]

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

Select item 149050321416.

rs1490503214 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 2:201151985 (GRCh38)
2:202016708 (GRCh37)
Canonical SPDI:: NC_000002.12:201151984:G:
Gene:: CFLAR (Varview), CFLAR-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.201151985del, NC_000002.11:g.202016708del, NG_029005.1:g.40832del

Select item 149048361217.

rs1490483612 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:201114312 (GRCh38)
2:201979035 (GRCh37)
Canonical SPDI:: NC_000002.12:201114311:G:T
Gene:: CFLAR (Varview), LOC105373836 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.201114312G>T, NC_000002.11:g.201979035G>T, NG_029005.1:g.3159G>T

Select item 149045344318.

rs1490453443 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:201120688 (GRCh38)
2:201985411 (GRCh37)
Canonical SPDI:: NC_000002.12:201120687:T:C
Gene:: CFLAR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.201120688T>C, NC_000002.11:g.201985411T>C, NG_029005.1:g.9535T>C, XM_047446185.1:c.-8970T>C, XR_007083723.1:n.1847T>C, XR_007083755.1:n.1847T>C, XM_047446197.1:c.-8970T>C

Select item 149044664419.

rs1490446644 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:201136267 (GRCh38)
2:202000990 (GRCh37)
Canonical SPDI:: NC_000002.12:201136266:T:G
Gene:: CFLAR (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000009/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.201136267T>G, NC_000002.11:g.202000990T>G, NG_029005.1:g.25114T>G, NM_001308043.2:c.593T>G, NM_001308043.1:c.593T>G, XR_007083755.1:n.11409T>G, XR_007083742.1:n.1048T>G, XR_007083745.1:n.916T>G, NP_001294972.1:p.Ile198Ser

Select item 149043756720.

rs1490437567 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:201116561 (GRCh38)
2:201981284 (GRCh37)
Canonical SPDI:: NC_000002.12:201116560:T:C
Gene:: CFLAR (Varview), LOC105373836 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000378/7 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000164/23 (GnomAD)
C=0.001339/6 (Estonian)
HGVS:: NC_000002.12:g.201116561T>C, NC_000002.11:g.201981284T>C, NG_029005.1:g.5408T>C, XR_923785.3:n.124A>G, XR_007088051.1:n.124A>G

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