SNP Links for Nucleotide (Select 355390241) - SNP

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Select item 14915779241.

rs1491577924 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:135790499 (GRCh38)
2:136548070 (GRCh37)
Canonical SPDI:: NC_000002.12:135790499:A:AA
Gene:: LCT (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.135790500dup, NC_000002.11:g.136548070dup, NG_008104.2:g.69670dup

Select item 14915566032.

rs1491556603 has merged into rs1175257435 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT [Show Flanks]
Chromosome:: 2:135836033 (GRCh38)
2:136593603 (GRCh37)
Canonical SPDI:: NC_000002.12:135836024:TTTTTTTTTTTT:TTTTTTTT,NC_000002.12:135836024:TTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:135836024:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:135836024:TTTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: LCT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.135836033_135836036del, NC_000002.12:g.135836035_135836036del, NC_000002.12:g.135836036del, NC_000002.12:g.135836036dup, NC_000002.11:g.136593603_136593606del, NC_000002.11:g.136593605_136593606del, NC_000002.11:g.136593606del, NC_000002.11:g.136593606dup, NG_008104.2:g.24142_24145del, NG_008104.2:g.24144_24145del, NG_008104.2:g.24145del, NG_008104.2:g.24145dup

Select item 14915436313.

rs1491543631 has merged into rs150578954 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCGC>-,GC,GCGC,GCGCGCGC,GCGCGCGCGC,GCGCGCGCGCGC [Show Flanks]
Chromosome:: 2:135795041 (GRCh38)
2:136552611 (GRCh37)
Canonical SPDI:: NC_000002.12:135795033:CGCGCGCGCGCGC:CGCGCGC,NC_000002.12:135795033:CGCGCGCGCGCGC:CGCGCGCGC,NC_000002.12:135795033:CGCGCGCGCGCGC:CGCGCGCGCGC,NC_000002.12:135795033:CGCGCGCGCGCGC:CGCGCGCGCGCGCGC,NC_000002.12:135795033:CGCGCGCGCGCGC:CGCGCGCGCGCGCGCGC,NC_000002.12:135795033:CGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGC
Gene:: LCT (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGCGCGC=0.0002/1 (ALFA)
-=0.011/11 (GoNL)
-=0.1316/241 (Korea1K)
HGVS:: NC_000002.12:g.135795035GC[3], NC_000002.12:g.135795035GC[4], NC_000002.12:g.135795035GC[5], NC_000002.12:g.135795035GC[7], NC_000002.12:g.135795035GC[8], NC_000002.12:g.135795035GC[9], NC_000002.11:g.136552605GC[3], NC_000002.11:g.136552605GC[4], NC_000002.11:g.136552605GC[5], NC_000002.11:g.136552605GC[7], NC_000002.11:g.136552605GC[8], NC_000002.11:g.136552605GC[9], NG_008104.2:g.65125CG[3], NG_008104.2:g.65125CG[4], NG_008104.2:g.65125CG[5], NG_008104.2:g.65125CG[7], NG_008104.2:g.65125CG[8], NG_008104.2:g.65125CG[9]

Select item 14914466864.

rs1491446686 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:135840214 (GRCh38)
2:136597784 (GRCh37)
Canonical SPDI:: NC_000002.12:135840211:TTTT:TT
Gene:: MCM6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.135840214_135840215del, NC_000002.11:g.136597784_136597785del, NG_008104.2:g.19957_19958del, NG_008958.1:g.41229_41230del, NM_005915.6:c.*622_*623del, NM_005915.5:c.*622_*623del

Select item 14913870415.

rs1491387041 has merged into rs55634938 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:135843744 (GRCh38)
2:136601314 (GRCh37)
Canonical SPDI:: NC_000002.12:135843730:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:135843730:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:135843730:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:135843730:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:135843730:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:135843730:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:135843730:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:135843730:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135843730:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135843730:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135843730:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135843730:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135843730:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MCM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.36/165 (NorthernSweden)
HGVS:: NC_000002.12:g.135843744_135843748del, NC_000002.12:g.135843745_135843748del, NC_000002.12:g.135843746_135843748del, NC_000002.12:g.135843747_135843748del, NC_000002.12:g.135843748del, NC_000002.12:g.135843748dup, NC_000002.12:g.135843747_135843748dup, NC_000002.12:g.135843745_135843748dup, NC_000002.12:g.135843744_135843748dup, NC_000002.12:g.135843743_135843748dup, NC_000002.12:g.135843742_135843748dup, NC_000002.12:g.135843741_135843748dup, NC_000002.12:g.135843738_135843748dup, NC_000002.11:g.136601314_136601318del, NC_000002.11:g.136601315_136601318del, NC_000002.11:g.136601316_136601318del, NC_000002.11:g.136601317_136601318del, NC_000002.11:g.136601318del, NC_000002.11:g.136601318dup, NC_000002.11:g.136601317_136601318dup, NC_000002.11:g.136601315_136601318dup, NC_000002.11:g.136601314_136601318dup, NC_000002.11:g.136601313_136601318dup, NC_000002.11:g.136601312_136601318dup, NC_000002.11:g.136601311_136601318dup, NC_000002.11:g.136601308_136601318dup, NG_008104.2:g.16435_16439del, NG_008104.2:g.16436_16439del, NG_008104.2:g.16437_16439del, NG_008104.2:g.16438_16439del, NG_008104.2:g.16439del, NG_008104.2:g.16439dup, NG_008104.2:g.16438_16439dup, NG_008104.2:g.16436_16439dup, NG_008104.2:g.16435_16439dup, NG_008104.2:g.16434_16439dup, NG_008104.2:g.16433_16439dup, NG_008104.2:g.16432_16439dup, NG_008104.2:g.16429_16439dup, NG_008958.1:g.37707_37711del, NG_008958.1:g.37708_37711del, NG_008958.1:g.37709_37711del, NG_008958.1:g.37710_37711del, NG_008958.1:g.37711del, NG_008958.1:g.37711dup, NG_008958.1:g.37710_37711dup, NG_008958.1:g.37708_37711dup, NG_008958.1:g.37707_37711dup, NG_008958.1:g.37706_37711dup, NG_008958.1:g.37705_37711dup, NG_008958.1:g.37704_37711dup, NG_008958.1:g.37701_37711dup

Select item 14913867046.

rs1491386704 has merged into rs745860913 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATATATATATATATATAT>-,ATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 2:135835986 (GRCh38)
2:136593556 (GRCh37)
Canonical SPDI:: NC_000002.12:135835976:TATATATATATATATATATATATATATATATATATATAT:TATATATAT,NC_000002.12:135835976:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATAT,NC_000002.12:135835976:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000002.12:135835976:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000002.12:135835976:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000002.12:135835976:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000002.12:135835976:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000002.12:135835976:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000002.12:135835976:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:135835976:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:135835976:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:135835976:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:135835976:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:135835976:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATAT
Gene:: LCT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000002.12:g.135835978AT[4], NC_000002.12:g.135835978AT[7], NC_000002.12:g.135835978AT[13], NC_000002.12:g.135835978AT[14], NC_000002.12:g.135835978AT[15], NC_000002.12:g.135835978AT[16], NC_000002.12:g.135835978AT[17], NC_000002.12:g.135835978AT[18], NC_000002.12:g.135835978AT[20], NC_000002.12:g.135835978AT[21], NC_000002.12:g.135835978AT[22], NC_000002.12:g.135835978AT[23], NC_000002.12:g.135835978AT[24], NC_000002.12:g.135835978AT[25], NC_000002.11:g.136593548AT[4], NC_000002.11:g.136593548AT[7], NC_000002.11:g.136593548AT[13], NC_000002.11:g.136593548AT[14], NC_000002.11:g.136593548AT[15], NC_000002.11:g.136593548AT[16], NC_000002.11:g.136593548AT[17], NC_000002.11:g.136593548AT[18], NC_000002.11:g.136593548AT[20], NC_000002.11:g.136593548AT[21], NC_000002.11:g.136593548AT[22], NC_000002.11:g.136593548AT[23], NC_000002.11:g.136593548AT[24], NC_000002.11:g.136593548AT[25], NG_008104.2:g.24156TA[4], NG_008104.2:g.24156TA[7], NG_008104.2:g.24156TA[13], NG_008104.2:g.24156TA[14], NG_008104.2:g.24156TA[15], NG_008104.2:g.24156TA[16], NG_008104.2:g.24156TA[17], NG_008104.2:g.24156TA[18], NG_008104.2:g.24156TA[20], NG_008104.2:g.24156TA[21], NG_008104.2:g.24156TA[22], NG_008104.2:g.24156TA[23], NG_008104.2:g.24156TA[24], NG_008104.2:g.24156TA[25]

Select item 14913761507.

rs1491376150 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAATT,TT [Show Flanks]
Chromosome:: 2:135795612 (GRCh38)
2:136553183 (GRCh37)
Canonical SPDI:: NC_000002.12:135795612::TAATT,NC_000002.12:135795612::TT
Gene:: LCT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TAATT=0.000008/1 (GnomAD)
TT=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.135795612_135795613insTAATT, NC_000002.12:g.135795612_135795613insTT, NC_000002.11:g.136553182_136553183insTAATT, NC_000002.11:g.136553182_136553183insTT, NG_008104.2:g.64557_64558insAATTA, NG_008104.2:g.64557_64558insAA

Select item 14913534608.

rs1491353460 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:135847569 (GRCh38)
2:136605139 (GRCh37)
Canonical SPDI:: NC_000002.12:135847567:TCT:T
Gene:: MCM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.007964/51 (1000Genomes)
-=0.008094/1134 (GnomAD)
HGVS:: NC_000002.12:g.135847569_135847570del, NC_000002.11:g.136605139_136605140del, NG_008104.2:g.12601_12602del, NG_008958.1:g.33873_33874del

Select item 14913389269.

rs1491338926 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:135790362 (GRCh38)
2:136547932 (GRCh37)
Canonical SPDI:: NC_000002.12:135790361:CA:
Gene:: LCT (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000337/4 (ALFA)
-=0.000392/55 (GnomAD)
HGVS:: NC_000002.12:g.135790362_135790363del, NC_000002.11:g.136547932_136547933del, NG_008104.2:g.69807_69808del

Select item 149133602510.

rs1491336025 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:135854530 (GRCh38)
2:136612101 (GRCh37)
Canonical SPDI:: NC_000002.12:135854530::G
Gene:: MCM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.135854530_135854531insG, NC_000002.11:g.136612100_136612101insG, NG_008104.2:g.5639_5640insC, NG_008958.1:g.26911_26912insC

Select item 149132143711.

rs1491321437 has merged into rs55900419 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATATATATATATATATATATATATATATAT>-,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 2:135835490 (GRCh38)
2:136593060 (GRCh37)
Canonical SPDI:: NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000002.12:135835482:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
Gene:: LCT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0./0 (ALFA)
TATATATATATATATATATATATATA=0./0 (GENOME_DK)
HGVS:: NC_000002.12:g.135835484AT[3], NC_000002.12:g.135835484AT[5], NC_000002.12:g.135835484AT[6], NC_000002.12:g.135835484AT[7], NC_000002.12:g.135835484AT[8], NC_000002.12:g.135835484AT[9], NC_000002.12:g.135835484AT[10], NC_000002.12:g.135835484AT[11], NC_000002.12:g.135835484AT[12], NC_000002.12:g.135835484AT[13], NC_000002.12:g.135835484AT[14], NC_000002.12:g.135835484AT[15], NC_000002.12:g.135835484AT[16], NC_000002.12:g.135835484AT[17], NC_000002.12:g.135835484AT[18], NC_000002.12:g.135835484AT[19], NC_000002.12:g.135835484AT[20], NC_000002.12:g.135835484AT[21], NC_000002.12:g.135835484AT[22], NC_000002.12:g.135835484AT[23], NC_000002.12:g.135835484AT[25], NC_000002.12:g.135835484AT[26], NC_000002.12:g.135835484AT[27], NC_000002.12:g.135835484AT[28], NC_000002.12:g.135835484AT[30], NC_000002.12:g.135835484AT[33], NC_000002.11:g.136593054AT[3], NC_000002.11:g.136593054AT[5], NC_000002.11:g.136593054AT[6], NC_000002.11:g.136593054AT[7], NC_000002.11:g.136593054AT[8], NC_000002.11:g.136593054AT[9], NC_000002.11:g.136593054AT[10], NC_000002.11:g.136593054AT[11], NC_000002.11:g.136593054AT[12], NC_000002.11:g.136593054AT[13], NC_000002.11:g.136593054AT[14], NC_000002.11:g.136593054AT[15], NC_000002.11:g.136593054AT[16], NC_000002.11:g.136593054AT[17], NC_000002.11:g.136593054AT[18], NC_000002.11:g.136593054AT[19], NC_000002.11:g.136593054AT[20], NC_000002.11:g.136593054AT[21], NC_000002.11:g.136593054AT[22], NC_000002.11:g.136593054AT[23], NC_000002.11:g.136593054AT[25], NC_000002.11:g.136593054AT[26], NC_000002.11:g.136593054AT[27], NC_000002.11:g.136593054AT[28], NC_000002.11:g.136593054AT[30], NC_000002.11:g.136593054AT[33], NG_008104.2:g.24640TA[3], NG_008104.2:g.24640TA[5], NG_008104.2:g.24640TA[6], NG_008104.2:g.24640TA[7], NG_008104.2:g.24640TA[8], NG_008104.2:g.24640TA[9], NG_008104.2:g.24640TA[10], NG_008104.2:g.24640TA[11], NG_008104.2:g.24640TA[12], NG_008104.2:g.24640TA[13], NG_008104.2:g.24640TA[14], NG_008104.2:g.24640TA[15], NG_008104.2:g.24640TA[16], NG_008104.2:g.24640TA[17], NG_008104.2:g.24640TA[18], NG_008104.2:g.24640TA[19], NG_008104.2:g.24640TA[20], NG_008104.2:g.24640TA[21], NG_008104.2:g.24640TA[22], NG_008104.2:g.24640TA[23], NG_008104.2:g.24640TA[25], NG_008104.2:g.24640TA[26], NG_008104.2:g.24640TA[27], NG_008104.2:g.24640TA[28], NG_008104.2:g.24640TA[30], NG_008104.2:g.24640TA[33]

Select item 149131418812.

rs1491314188 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AATATA [Show Flanks]
Chromosome:: 2:135835977 (GRCh38)
2:136593548 (GRCh37)
Canonical SPDI:: NC_000002.12:135835977:ATATA:ATATAAATATA
Gene:: LCT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAAATATA=0.00312/37 (ALFA)
ATATAA=0./0 (Korea1K)
ATATAA=0.00004/1 (TOMMO)
ATATAA=0.04733/493 (GnomAD)
HGVS:: NC_000002.12:g.135835978_135835982AT[2]AAATATA[1], NC_000002.11:g.136593548_136593552AT[2]AAATATA[1], NG_008104.2:g.24188_24192TA[2]TTTATAT[1]

Select item 149128803113.

rs1491288031 [Homo sapiens]

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

Select item 149126197514.

rs1491261975 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ACACATA,ATA [Show Flanks]
Chromosome:: 2:135836025 (GRCh38)
2:136593596 (GRCh37)
Canonical SPDI:: NC_000002.12:135836025::A,NC_000002.12:135836025::ACACATA,NC_000002.12:135836025::ATA
Gene:: LCT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACATA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00013/2 (TOMMO)
HGVS:: NC_000002.12:g.135836025_135836026insA, NC_000002.12:g.135836025_135836026insACACATA, NC_000002.12:g.135836025_135836026insATA, NC_000002.11:g.136593595_136593596insA, NC_000002.11:g.136593595_136593596insACACATA, NC_000002.11:g.136593595_136593596insATA, NG_008104.2:g.24144_24145insT, NG_008104.2:g.24144_24145insTATGTGT, NG_008104.2:g.24144_24145insTAT

Select item 149125461915.

rs1491254619 has merged into rs60681905 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:135829849 (GRCh38)
2:136587419 (GRCh37)
Canonical SPDI:: NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: LCT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.2216/1110 (1000Genomes)
HGVS:: NC_000002.12:g.135829831GT[9], NC_000002.12:g.135829831GT[10], NC_000002.12:g.135829831GT[11], NC_000002.12:g.135829831GT[12], NC_000002.12:g.135829831GT[14], NC_000002.12:g.135829831GT[15], NC_000002.12:g.135829831GT[16], NC_000002.12:g.135829831GT[17], NC_000002.12:g.135829831GT[18], NC_000002.12:g.135829831GT[19], NC_000002.12:g.135829831GT[20], NC_000002.12:g.135829831GT[21], NC_000002.12:g.135829831GT[22], NC_000002.12:g.135829831GT[23], NC_000002.11:g.136587401GT[9], NC_000002.11:g.136587401GT[10], NC_000002.11:g.136587401GT[11], NC_000002.11:g.136587401GT[12], NC_000002.11:g.136587401GT[14], NC_000002.11:g.136587401GT[15], NC_000002.11:g.136587401GT[16], NC_000002.11:g.136587401GT[17], NC_000002.11:g.136587401GT[18], NC_000002.11:g.136587401GT[19], NC_000002.11:g.136587401GT[20], NC_000002.11:g.136587401GT[21], NC_000002.11:g.136587401GT[22], NC_000002.11:g.136587401GT[23], NG_008104.2:g.30314AC[9], NG_008104.2:g.30314AC[10], NG_008104.2:g.30314AC[11], NG_008104.2:g.30314AC[12], NG_008104.2:g.30314AC[14], NG_008104.2:g.30314AC[15], NG_008104.2:g.30314AC[16], NG_008104.2:g.30314AC[17], NG_008104.2:g.30314AC[18], NG_008104.2:g.30314AC[19], NG_008104.2:g.30314AC[20], NG_008104.2:g.30314AC[21], NG_008104.2:g.30314AC[22], NG_008104.2:g.30314AC[23]

Select item 149125461416.

rs1491254614 [Homo sapiens]

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

Select item 149124164417.

rs1491241644 has merged into rs1181597035 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:135854539 (GRCh38)
2:136612109 (GRCh37)
Canonical SPDI:: NC_000002.12:135854529:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:135854529:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:135854529:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:135854529:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:135854529:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:135854529:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:135854529:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:135854529:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:135854529:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:135854529:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:135854529:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:135854529:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:135854529:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135854529:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135854529:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135854529:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135854529:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135854529:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MCM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.135854539_135854551del, NC_000002.12:g.135854540_135854551del, NC_000002.12:g.135854541_135854551del, NC_000002.12:g.135854542_135854551del, NC_000002.12:g.135854543_135854551del, NC_000002.12:g.135854544_135854551del, NC_000002.12:g.135854545_135854551del, NC_000002.12:g.135854546_135854551del, NC_000002.12:g.135854547_135854551del, NC_000002.12:g.135854548_135854551del, NC_000002.12:g.135854549_135854551del, NC_000002.12:g.135854550_135854551del, NC_000002.12:g.135854551del, NC_000002.12:g.135854551dup, NC_000002.12:g.135854550_135854551dup, NC_000002.12:g.135854549_135854551dup, NC_000002.12:g.135854548_135854551dup, NC_000002.12:g.135854547_135854551dup, NC_000002.11:g.136612109_136612121del, NC_000002.11:g.136612110_136612121del, NC_000002.11:g.136612111_136612121del, NC_000002.11:g.136612112_136612121del, NC_000002.11:g.136612113_136612121del, NC_000002.11:g.136612114_136612121del, NC_000002.11:g.136612115_136612121del, NC_000002.11:g.136612116_136612121del, NC_000002.11:g.136612117_136612121del, NC_000002.11:g.136612118_136612121del, NC_000002.11:g.136612119_136612121del, NC_000002.11:g.136612120_136612121del, NC_000002.11:g.136612121del, NC_000002.11:g.136612121dup, NC_000002.11:g.136612120_136612121dup, NC_000002.11:g.136612119_136612121dup, NC_000002.11:g.136612118_136612121dup, NC_000002.11:g.136612117_136612121dup, NG_008104.2:g.5628_5640del, NG_008104.2:g.5629_5640del, NG_008104.2:g.5630_5640del, NG_008104.2:g.5631_5640del, NG_008104.2:g.5632_5640del, NG_008104.2:g.5633_5640del, NG_008104.2:g.5634_5640del, NG_008104.2:g.5635_5640del, NG_008104.2:g.5636_5640del, NG_008104.2:g.5637_5640del, NG_008104.2:g.5638_5640del, NG_008104.2:g.5639_5640del, NG_008104.2:g.5640del, NG_008104.2:g.5640dup, NG_008104.2:g.5639_5640dup, NG_008104.2:g.5638_5640dup, NG_008104.2:g.5637_5640dup, NG_008104.2:g.5636_5640dup, NG_008958.1:g.26900_26912del, NG_008958.1:g.26901_26912del, NG_008958.1:g.26902_26912del, NG_008958.1:g.26903_26912del, NG_008958.1:g.26904_26912del, NG_008958.1:g.26905_26912del, NG_008958.1:g.26906_26912del, NG_008958.1:g.26907_26912del, NG_008958.1:g.26908_26912del, NG_008958.1:g.26909_26912del, NG_008958.1:g.26910_26912del, NG_008958.1:g.26911_26912del, NG_008958.1:g.26912del, NG_008958.1:g.26912dup, NG_008958.1:g.26911_26912dup, NG_008958.1:g.26910_26912dup, NG_008958.1:g.26909_26912dup, NG_008958.1:g.26908_26912dup

Select item 149122964418.

rs1491229644 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:135843730 (GRCh38)
2:136601300 (GRCh37)
Canonical SPDI:: NC_000002.12:135843729:CA:
Gene:: MCM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000002.12:g.135843730_135843731del, NC_000002.11:g.136601300_136601301del, NG_008104.2:g.16439_16440del, NG_008958.1:g.37711_37712del

Select item 149121527019.

rs1491215270 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATT [Show Flanks]
Chromosome:: 2:135840212 (GRCh38)
2:136597783 (GRCh37)
Canonical SPDI:: NC_000002.12:135840212:TT:TTATT
Gene:: MCM6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TTATT=0.000674/8 (ALFA)
TTA=0.001258/153 (GnomAD)
HGVS:: NC_000002.12:g.135840214_135840215insATT, NC_000002.11:g.136597784_136597785insATT, NG_008104.2:g.19957_19958insTAA, NG_008958.1:g.41229_41230insTAA, NM_005915.6:c.*622_*623insTAA, NM_005915.5:c.*622_*623insTAA

Select item 149120565120.

rs1491205651 has merged into rs1553651428 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA [Show Flanks]
Chromosome:: 2:135795062 (GRCh38)
2:136552632 (GRCh37)
Canonical SPDI:: NC_000002.12:135795045:CACACACACACACACACACACACA:CACACACACACACACA,NC_000002.12:135795045:CACACACACACACACACACACACA:CACACACACACACACACA,NC_000002.12:135795045:CACACACACACACACACACACACA:CACACACACACACACACACA,NC_000002.12:135795045:CACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000002.12:135795045:CACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000002.12:135795045:CACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000002.12:135795045:CACACACACACACACACACACACA:CACACACACACACACACACACACACACACA
Gene:: LCT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
CA=0.008224/15 (Korea1K)
CA=0.01/6 (NorthernSweden)
CA=0.421121/1623 (ALSPAC)
CA=0.442557/1641 (TWINSUK)
HGVS:: NC_000002.12:g.135795046CA[8], NC_000002.12:g.135795046CA[9], NC_000002.12:g.135795046CA[10], NC_000002.12:g.135795046CA[11], NC_000002.12:g.135795046CA[13], NC_000002.12:g.135795046CA[14], NC_000002.12:g.135795046CA[15], NC_000002.11:g.136552616CA[8], NC_000002.11:g.136552616CA[9], NC_000002.11:g.136552616CA[10], NC_000002.11:g.136552616CA[11], NC_000002.11:g.136552616CA[13], NC_000002.11:g.136552616CA[14], NC_000002.11:g.136552616CA[15], NG_008104.2:g.65101TG[8], NG_008104.2:g.65101TG[9], NG_008104.2:g.65101TG[10], NG_008104.2:g.65101TG[11], NG_008104.2:g.65101TG[13], NG_008104.2:g.65101TG[14], NG_008104.2:g.65101TG[15]

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