SNP Links for Gene (Select 100131211) - SNP

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Select item 14915375981.

rs1491537598 has merged into rs56324449 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:190517099 (GRCh38)
2:191381825 (GRCh37)
Canonical SPDI:: NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190517090:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NEMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000002.12:g.190517099_190517111del, NC_000002.12:g.190517100_190517111del, NC_000002.12:g.190517102_190517111del, NC_000002.12:g.190517103_190517111del, NC_000002.12:g.190517107_190517111del, NC_000002.12:g.190517108_190517111del, NC_000002.12:g.190517109_190517111del, NC_000002.12:g.190517110_190517111del, NC_000002.12:g.190517111del, NC_000002.12:g.190517111dup, NC_000002.12:g.190517110_190517111dup, NC_000002.12:g.190517109_190517111dup, NC_000002.12:g.190517108_190517111dup, NC_000002.12:g.190517107_190517111dup, NC_000002.12:g.190517106_190517111dup, NC_000002.12:g.190517111_190517112insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.191381825_191381837del, NC_000002.11:g.191381826_191381837del, NC_000002.11:g.191381828_191381837del, NC_000002.11:g.191381829_191381837del, NC_000002.11:g.191381833_191381837del, NC_000002.11:g.191381834_191381837del, NC_000002.11:g.191381835_191381837del, NC_000002.11:g.191381836_191381837del, NC_000002.11:g.191381837del, NC_000002.11:g.191381837dup, NC_000002.11:g.191381836_191381837dup, NC_000002.11:g.191381835_191381837dup, NC_000002.11:g.191381834_191381837dup, NC_000002.11:g.191381833_191381837dup, NC_000002.11:g.191381832_191381837dup, NC_000002.11:g.191381837_191381838insAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915014292.

rs1491501429 has merged into rs71027226 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:190540299 (GRCh38)
2:191405025 (GRCh37)
Canonical SPDI:: NC_000002.12:190540287:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:190540287:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:190540287:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:190540287:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:190540287:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:190540287:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NEMP2 (Varview), NEMP2-DT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0.0008/4 (ALFA)
T=0.1957/117 (NorthernSweden)
T=0.222/1112 (1000Genomes)
T=0.225/9 (GENOME_DK)
HGVS:: NC_000002.12:g.190540299_190540301del, NC_000002.12:g.190540300_190540301del, NC_000002.12:g.190540301del, NC_000002.12:g.190540301dup, NC_000002.12:g.190540298_190540301dup, NC_000002.12:g.190540288_190540301dup, NC_000002.11:g.191405025_191405027del, NC_000002.11:g.191405026_191405027del, NC_000002.11:g.191405027del, NC_000002.11:g.191405027dup, NC_000002.11:g.191405024_191405027dup, NC_000002.11:g.191405014_191405027dup

Select item 14914887193.

rs1491488719 [Homo sapiens]

Variant type:: INS
Alleles:: ->TC,TCAC [Show Flanks]
Chromosome:: 2:190572834 (GRCh38)
2:191437561 (GRCh37)
Canonical SPDI:: NC_000002.12:190572834::TC,NC_000002.12:190572834::TCAC
Gene:: NEMP2 (Varview), NEMP2-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TC=0.00145/17 (ALFA)
TCAC=0.000004/1 (TOPMED)
TC=0.005848/210 (GnomAD)
HGVS:: NC_000002.12:g.190572834_190572835insTC, NC_000002.12:g.190572834_190572835insTCAC, NC_000002.11:g.191437560_191437561insTC, NC_000002.11:g.191437560_191437561insTCAC

Select item 14914690324.

rs1491469032 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:190483835 (GRCh38)
2:191348561 (GRCh37)
Canonical SPDI:: NC_000002.12:190483834:CA:
Gene:: MFSD6 (Varview), NEMP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.190483835_190483836del, NC_000002.11:g.191348561_191348562del

Select item 14914674025.

rs1491467402 has merged into rs11284510 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:190544944 (GRCh38)
2:191409670 (GRCh37)
Canonical SPDI:: NC_000002.12:190544930:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:190544930:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:190544930:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:190544930:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:190544930:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:190544930:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:190544930:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:190544930:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190544930:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190544930:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190544930:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190544930:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190544930:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190544930:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NEMP2 (Varview), NEMP2-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.190544944_190544953del, NC_000002.12:g.190544946_190544953del, NC_000002.12:g.190544947_190544953del, NC_000002.12:g.190544948_190544953del, NC_000002.12:g.190544949_190544953del, NC_000002.12:g.190544950_190544953del, NC_000002.12:g.190544951_190544953del, NC_000002.12:g.190544952_190544953del, NC_000002.12:g.190544953del, NC_000002.12:g.190544953dup, NC_000002.12:g.190544952_190544953dup, NC_000002.12:g.190544951_190544953dup, NC_000002.12:g.190544950_190544953dup, NC_000002.12:g.190544948_190544953dup, NC_000002.11:g.191409670_191409679del, NC_000002.11:g.191409672_191409679del, NC_000002.11:g.191409673_191409679del, NC_000002.11:g.191409674_191409679del, NC_000002.11:g.191409675_191409679del, NC_000002.11:g.191409676_191409679del, NC_000002.11:g.191409677_191409679del, NC_000002.11:g.191409678_191409679del, NC_000002.11:g.191409679del, NC_000002.11:g.191409679dup, NC_000002.11:g.191409678_191409679dup, NC_000002.11:g.191409677_191409679dup, NC_000002.11:g.191409676_191409679dup, NC_000002.11:g.191409674_191409679dup

Select item 14914445976.

rs1491444597 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:190544930 (GRCh38)
2:191409656 (GRCh37)
Canonical SPDI:: NC_000002.12:190544929:CA:
Gene:: NEMP2 (Varview), NEMP2-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00126/15 (ALFA)
HGVS:: NC_000002.12:g.190544930_190544931del, NC_000002.11:g.191409656_191409657del

Select item 14914393537.

rs1491439353 has merged into rs71027230 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 2:190572841 (GRCh38)
2:191437567 (GRCh37)
Canonical SPDI:: NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:190572833:TATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
Gene:: NEMP2 (Varview), NEMP2-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATAT=0./0 (ALFA)
HGVS:: NC_000002.12:g.190572835AT[3], NC_000002.12:g.190572835AT[4], NC_000002.12:g.190572835AT[5], NC_000002.12:g.190572835AT[6], NC_000002.12:g.190572835AT[7], NC_000002.12:g.190572835AT[8], NC_000002.12:g.190572835AT[9], NC_000002.12:g.190572835AT[10], NC_000002.12:g.190572835AT[11], NC_000002.12:g.190572835AT[12], NC_000002.12:g.190572835AT[13], NC_000002.12:g.190572835AT[14], NC_000002.12:g.190572835AT[15], NC_000002.12:g.190572835AT[16], NC_000002.12:g.190572835AT[17], NC_000002.12:g.190572835AT[18], NC_000002.12:g.190572835AT[19], NC_000002.12:g.190572835AT[20], NC_000002.12:g.190572835AT[22], NC_000002.12:g.190572835AT[23], NC_000002.12:g.190572835AT[24], NC_000002.12:g.190572835AT[25], NC_000002.12:g.190572835AT[26], NC_000002.12:g.190572835AT[27], NC_000002.12:g.190572835AT[28], NC_000002.12:g.190572835AT[29], NC_000002.12:g.190572835AT[30], NC_000002.12:g.190572835AT[31], NC_000002.11:g.191437561AT[3], NC_000002.11:g.191437561AT[4], NC_000002.11:g.191437561AT[5], NC_000002.11:g.191437561AT[6], NC_000002.11:g.191437561AT[7], NC_000002.11:g.191437561AT[8], NC_000002.11:g.191437561AT[9], NC_000002.11:g.191437561AT[10], NC_000002.11:g.191437561AT[11], NC_000002.11:g.191437561AT[12], NC_000002.11:g.191437561AT[13], NC_000002.11:g.191437561AT[14], NC_000002.11:g.191437561AT[15], NC_000002.11:g.191437561AT[16], NC_000002.11:g.191437561AT[17], NC_000002.11:g.191437561AT[18], NC_000002.11:g.191437561AT[19], NC_000002.11:g.191437561AT[20], NC_000002.11:g.191437561AT[22], NC_000002.11:g.191437561AT[23], NC_000002.11:g.191437561AT[24], NC_000002.11:g.191437561AT[25], NC_000002.11:g.191437561AT[26], NC_000002.11:g.191437561AT[27], NC_000002.11:g.191437561AT[28], NC_000002.11:g.191437561AT[29], NC_000002.11:g.191437561AT[30], NC_000002.11:g.191437561AT[31]

Select item 14912583608.

rs1491258360 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:190584962 (GRCh38)
2:191449689 (GRCh37)
Canonical SPDI:: NC_000002.12:190584962:G:GG
Gene:: NEMP2 (Varview), NEMP2-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000002.12:g.190584963dup, NC_000002.11:g.191449689dup

Select item 14912538719.

rs1491253871 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:190517090 (GRCh38)
2:191381816 (GRCh37)
Canonical SPDI:: NC_000002.12:190517089:CA:
Gene:: NEMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0054/64 (ALFA)
HGVS:: NC_000002.12:g.190517090_190517091del, NC_000002.11:g.191381816_191381817del

Select item 149114664910.

rs1491146649 has merged into rs34290048 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 2:190541194 (GRCh38)
2:191405920 (GRCh37)
Canonical SPDI:: NC_000002.12:190541180:TATATATATATATAT:TATATATATATAT,NC_000002.12:190541180:TATATATATATATAT:TATATATATATATATAT,NC_000002.12:190541180:TATATATATATATAT:TATATATATATATATATAT
Gene:: NEMP2 (Varview), NEMP2-DT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATAT=0./0 (ALFA)
TA=0.275/11 (GENOME_DK)
TA=0.29833/179 (NorthernSweden)
HGVS:: NC_000002.12:g.190541182AT[6], NC_000002.12:g.190541182AT[8], NC_000002.12:g.190541182AT[9], NC_000002.11:g.191405908AT[6], NC_000002.11:g.191405908AT[8], NC_000002.11:g.191405908AT[9]

Select item 149107633711.

rs1491076337 has merged into rs71027223 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:190468631 (GRCh38)
2:191333357 (GRCh37)
Canonical SPDI:: NC_000002.12:190468619:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:190468619:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:190468619:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:190468619:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:190468619:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:190468619:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:190468619:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:190468619:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190468619:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190468619:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:190468619:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MFSD6 (Varview), NEMP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.3706/1856 (1000Genomes)
HGVS:: NC_000002.12:g.190468631_190468638del, NC_000002.12:g.190468632_190468638del, NC_000002.12:g.190468633_190468638del, NC_000002.12:g.190468636_190468638del, NC_000002.12:g.190468637_190468638del, NC_000002.12:g.190468638del, NC_000002.12:g.190468638dup, NC_000002.12:g.190468637_190468638dup, NC_000002.12:g.190468636_190468638dup, NC_000002.12:g.190468635_190468638dup, NC_000002.12:g.190468628_190468638dup, NC_000002.11:g.191333357_191333364del, NC_000002.11:g.191333358_191333364del, NC_000002.11:g.191333359_191333364del, NC_000002.11:g.191333362_191333364del, NC_000002.11:g.191333363_191333364del, NC_000002.11:g.191333364del, NC_000002.11:g.191333364dup, NC_000002.11:g.191333363_191333364dup, NC_000002.11:g.191333362_191333364dup, NC_000002.11:g.191333361_191333364dup, NC_000002.11:g.191333354_191333364dup

Select item 149107125812.

rs1491071258 has merged into rs71027227 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 2:190541880 (GRCh38)
2:191406606 (GRCh37)
Canonical SPDI:: NC_000002.12:190541870:TTTTTTTTTTT:TTTTTTTTT,NC_000002.12:190541870:TTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:190541870:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:190541870:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:190541870:TTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: NEMP2 (Varview), NEMP2-DT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0.0008/5 (ALFA)
-=0.281/713 (1000Genomes)
HGVS:: NC_000002.12:g.190541880_190541881del, NC_000002.12:g.190541881del, NC_000002.12:g.190541881dup, NC_000002.12:g.190541880_190541881dup, NC_000002.12:g.190541879_190541881dup, NC_000002.11:g.191406606_191406607del, NC_000002.11:g.191406607del, NC_000002.11:g.191406607dup, NC_000002.11:g.191406606_191406607dup, NC_000002.11:g.191406605_191406607dup

Select item 149096108913.

rs1490961089 has merged into rs34089229 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:190483846 (GRCh38)
2:191348572 (GRCh37)
Canonical SPDI:: NC_000002.12:190483835:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:190483835:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:190483835:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:190483835:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:190483835:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:190483835:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:190483835:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:190483835:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:190483835:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:190483835:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:190483835:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190483835:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190483835:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:190483835:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MFSD6 (Varview), NEMP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.1178/590 (1000Genomes)
HGVS:: NC_000002.12:g.190483846_190483856del, NC_000002.12:g.190483847_190483856del, NC_000002.12:g.190483849_190483856del, NC_000002.12:g.190483850_190483856del, NC_000002.12:g.190483851_190483856del, NC_000002.12:g.190483852_190483856del, NC_000002.12:g.190483853_190483856del, NC_000002.12:g.190483854_190483856del, NC_000002.12:g.190483855_190483856del, NC_000002.12:g.190483856del, NC_000002.12:g.190483856dup, NC_000002.12:g.190483855_190483856dup, NC_000002.12:g.190483854_190483856dup, NC_000002.12:g.190483853_190483856dup, NC_000002.11:g.191348572_191348582del, NC_000002.11:g.191348573_191348582del, NC_000002.11:g.191348575_191348582del, NC_000002.11:g.191348576_191348582del, NC_000002.11:g.191348577_191348582del, NC_000002.11:g.191348578_191348582del, NC_000002.11:g.191348579_191348582del, NC_000002.11:g.191348580_191348582del, NC_000002.11:g.191348581_191348582del, NC_000002.11:g.191348582del, NC_000002.11:g.191348582dup, NC_000002.11:g.191348581_191348582dup, NC_000002.11:g.191348580_191348582dup, NC_000002.11:g.191348579_191348582dup

Select item 149093592014.

rs1490935920 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:190485095 (GRCh38)
2:191349821 (GRCh37)
Canonical SPDI:: NC_000002.12:190485094:A:C
Gene:: MFSD6 (Varview), NEMP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.190485095A>C, NC_000002.11:g.191349821A>C

Select item 149091445915.

rs1490914459 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:190533997 (GRCh38)
2:191398724 (GRCh37)
Canonical SPDI:: NC_000002.12:190533997:T:TT
Gene:: NEMP2 (Varview), NEMP2-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000078/11 (GnomAD)
T=0.000098/26 (TOPMED)
HGVS:: NC_000002.12:g.190533998dup, NC_000002.11:g.191398724dup

Select item 149090651616.

rs1490906516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:190564474 (GRCh38)
2:191429200 (GRCh37)
Canonical SPDI:: NC_000002.12:190564473:C:G,NC_000002.12:190564473:C:T
Gene:: NEMP2 (Varview), NEMP2-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.190564474C>G, NC_000002.12:g.190564474C>T, NC_000002.11:g.191429200C>G, NC_000002.11:g.191429200C>T

Select item 149089453317.

rs1490894533 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:190530046 (GRCh38)
2:191394772 (GRCh37)
Canonical SPDI:: NC_000002.12:190530045:C:T
Gene:: NEMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.190530046C>T, NC_000002.11:g.191394772C>T

Select item 149087579718.

rs1490875797 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:190574275 (GRCh38)
2:191439001 (GRCh37)
Canonical SPDI:: NC_000002.12:190574274:T:C
Gene:: NEMP2 (Varview), NEMP2-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.190574275T>C, NC_000002.11:g.191439001T>C

Select item 149086069219.

rs1490860692 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:190571626 (GRCh38)
2:191436352 (GRCh37)
Canonical SPDI:: NC_000002.12:190571625:A:C
Gene:: NEMP2 (Varview), NEMP2-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.190571626A>C, NC_000002.11:g.191436352A>C

Select item 149081002020.

rs1490810020 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 2:190488433 (GRCh38)
2:191353159 (GRCh37)
Canonical SPDI:: NC_000002.12:190488432:AAAAA:AAAA
Gene:: MFSD6 (Varview), NEMP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.190488437del, NC_000002.11:g.191353163del

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