SNP Links for Nucleotide (Select 198041722) - SNP

Links from Nucleotide

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Select item 14915396581.

rs1491539658 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAAAA [Show Flanks]
Chromosome:: 7:5996578 (GRCh38)
7:6036210 (GRCh37)
Canonical SPDI:: NC_000007.14:5996578:AAAAAA:AAAAAACAAAAAA
Gene:: PMS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAACAAAAAA=0.00067/8 (ALFA)
HGVS:: NC_000007.14:g.5996579_5996584A[6]CAAAAAA[1], NC_000007.13:g.6036210_6036215A[6]CAAAAAA[1], NG_008466.1:g.17523_17528T[6]GTTTTTT[1]

Select item 14914955792.

rs1491495579 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:5997426 (GRCh38)
7:6037057 (GRCh37)
Canonical SPDI:: NC_000007.14:5997425:GA:
Gene:: PMS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0101/39 (ALSPAC)
-=0.0138/51 (TWINSUK)
HGVS:: NC_000007.14:g.5997426_5997427del, NC_000007.13:g.6037057_6037058del, NG_008466.1:g.16680_16681del

Select item 14914329953.

rs1491432995 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 7:5979225 (GRCh38)
7:6018856 (GRCh37)
Canonical SPDI:: NC_000007.14:5979222:ACAC:AC
Gene:: PMS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACAC=0./0 (ALFA)
HGVS:: NC_000007.14:g.5979223AC[1], NC_000007.13:g.6018854AC[1], NG_008466.1:g.34881GT[1]

Select item 14914289424.

rs1491428942 has merged into rs10543125 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:5988065 (GRCh38)
7:6027696 (GRCh37)
Canonical SPDI:: NC_000007.14:5988052:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:5988052:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:5988052:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:5988052:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:5988052:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:5988052:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:5988052:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:5988052:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:5988052:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:5988052:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:5988052:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:5988052:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:5988052:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:5988052:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:5988052:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:5988052:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:5988052:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PMS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.5988065_5988078del, NC_000007.14:g.5988066_5988078del, NC_000007.14:g.5988067_5988078del, NC_000007.14:g.5988068_5988078del, NC_000007.14:g.5988069_5988078del, NC_000007.14:g.5988070_5988078del, NC_000007.14:g.5988071_5988078del, NC_000007.14:g.5988072_5988078del, NC_000007.14:g.5988073_5988078del, NC_000007.14:g.5988074_5988078del, NC_000007.14:g.5988075_5988078del, NC_000007.14:g.5988076_5988078del, NC_000007.14:g.5988077_5988078del, NC_000007.14:g.5988078del, NC_000007.14:g.5988078dup, NC_000007.14:g.5988077_5988078dup, NC_000007.14:g.5988076_5988078dup, NC_000007.13:g.6027696_6027709del, NC_000007.13:g.6027697_6027709del, NC_000007.13:g.6027698_6027709del, NC_000007.13:g.6027699_6027709del, NC_000007.13:g.6027700_6027709del, NC_000007.13:g.6027701_6027709del, NC_000007.13:g.6027702_6027709del, NC_000007.13:g.6027703_6027709del, NC_000007.13:g.6027704_6027709del, NC_000007.13:g.6027705_6027709del, NC_000007.13:g.6027706_6027709del, NC_000007.13:g.6027707_6027709del, NC_000007.13:g.6027708_6027709del, NC_000007.13:g.6027709del, NC_000007.13:g.6027709dup, NC_000007.13:g.6027708_6027709dup, NC_000007.13:g.6027707_6027709dup, NG_008466.1:g.26041_26054del, NG_008466.1:g.26042_26054del, NG_008466.1:g.26043_26054del, NG_008466.1:g.26044_26054del, NG_008466.1:g.26045_26054del, NG_008466.1:g.26046_26054del, NG_008466.1:g.26047_26054del, NG_008466.1:g.26048_26054del, NG_008466.1:g.26049_26054del, NG_008466.1:g.26050_26054del, NG_008466.1:g.26051_26054del, NG_008466.1:g.26052_26054del, NG_008466.1:g.26053_26054del, NG_008466.1:g.26054del, NG_008466.1:g.26054dup, NG_008466.1:g.26053_26054dup, NG_008466.1:g.26052_26054dup

Select item 14914141335.

rs1491414133 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:6013953 (GRCh38)
7:6053585 (GRCh37)
Canonical SPDI:: NC_000007.14:6013953::A
Gene:: AIMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.6013953_6013954insA, NC_000007.13:g.6053584_6053585insA, NG_008466.1:g.153_154insT, NG_050738.1:g.9703_9704insA

Select item 14914050836.

rs1491405083 has merged into rs10595058 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATA>-,TATATA,TATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA [Show Flanks]
Chromosome:: 7:6003316 (GRCh38)
7:6042947 (GRCh37)
Canonical SPDI:: NC_000007.14:6003306:ATATATATATATATATATA:ATATATATA,NC_000007.14:6003306:ATATATATATATATATATA:ATATATATATATATA,NC_000007.14:6003306:ATATATATATATATATATA:ATATATATATATATATA,NC_000007.14:6003306:ATATATATATATATATATA:ATATATATATATATATATATA,NC_000007.14:6003306:ATATATATATATATATATA:ATATATATATATATATATATATA,NC_000007.14:6003306:ATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000007.14:6003306:ATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000007.14:6003306:ATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000007.14:6003306:ATATATATATATATATATA:ATATATATATATATATATATATATATATATA
Gene:: PMS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATATATATA=0./0 (ALFA)
-=0.13838/693 (1000Genomes)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000007.14:g.6003308TA[4], NC_000007.14:g.6003308TA[7], NC_000007.14:g.6003308TA[8], NC_000007.14:g.6003308TA[10], NC_000007.14:g.6003308TA[11], NC_000007.14:g.6003308TA[12], NC_000007.14:g.6003308TA[13], NC_000007.14:g.6003308TA[14], NC_000007.14:g.6003308TA[15], NC_000007.13:g.6042939TA[4], NC_000007.13:g.6042939TA[7], NC_000007.13:g.6042939TA[8], NC_000007.13:g.6042939TA[10], NC_000007.13:g.6042939TA[11], NC_000007.13:g.6042939TA[12], NC_000007.13:g.6042939TA[13], NC_000007.13:g.6042939TA[14], NC_000007.13:g.6042939TA[15], NG_008466.1:g.10783AT[4], NG_008466.1:g.10783AT[7], NG_008466.1:g.10783AT[8], NG_008466.1:g.10783AT[10], NG_008466.1:g.10783AT[11], NG_008466.1:g.10783AT[12], NG_008466.1:g.10783AT[13], NG_008466.1:g.10783AT[14], NG_008466.1:g.10783AT[15]

Select item 14912178577.

rs1491217857 has merged into rs1156596688 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:6009965 (GRCh38)
7:6049596 (GRCh37)
Canonical SPDI:: NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:6009949:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PMS2 (Varview), AIMP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.01702/8 (NorthernSweden)
HGVS:: NC_000007.14:g.6009965_6009975del, NC_000007.14:g.6009966_6009975del, NC_000007.14:g.6009967_6009975del, NC_000007.14:g.6009968_6009975del, NC_000007.14:g.6009969_6009975del, NC_000007.14:g.6009970_6009975del, NC_000007.14:g.6009971_6009975del, NC_000007.14:g.6009972_6009975del, NC_000007.14:g.6009973_6009975del, NC_000007.14:g.6009974_6009975del, NC_000007.14:g.6009975del, NC_000007.14:g.6009975dup, NC_000007.14:g.6009974_6009975dup, NC_000007.14:g.6009973_6009975dup, NC_000007.14:g.6009972_6009975dup, NC_000007.14:g.6009971_6009975dup, NC_000007.14:g.6009970_6009975dup, NC_000007.14:g.6009969_6009975dup, NC_000007.14:g.6009968_6009975dup, NC_000007.14:g.6009967_6009975dup, NC_000007.14:g.6009966_6009975dup, NC_000007.14:g.6009965_6009975dup, NC_000007.14:g.6009964_6009975dup, NC_000007.14:g.6009960_6009975dup, NC_000007.13:g.6049596_6049606del, NC_000007.13:g.6049597_6049606del, NC_000007.13:g.6049598_6049606del, NC_000007.13:g.6049599_6049606del, NC_000007.13:g.6049600_6049606del, NC_000007.13:g.6049601_6049606del, NC_000007.13:g.6049602_6049606del, NC_000007.13:g.6049603_6049606del, NC_000007.13:g.6049604_6049606del, NC_000007.13:g.6049605_6049606del, NC_000007.13:g.6049606del, NC_000007.13:g.6049606dup, NC_000007.13:g.6049605_6049606dup, NC_000007.13:g.6049604_6049606dup, NC_000007.13:g.6049603_6049606dup, NC_000007.13:g.6049602_6049606dup, NC_000007.13:g.6049601_6049606dup, NC_000007.13:g.6049600_6049606dup, NC_000007.13:g.6049599_6049606dup, NC_000007.13:g.6049598_6049606dup, NC_000007.13:g.6049597_6049606dup, NC_000007.13:g.6049596_6049606dup, NC_000007.13:g.6049595_6049606dup, NC_000007.13:g.6049591_6049606dup, NG_008466.1:g.4147_4157del, NG_008466.1:g.4148_4157del, NG_008466.1:g.4149_4157del, NG_008466.1:g.4150_4157del, NG_008466.1:g.4151_4157del, NG_008466.1:g.4152_4157del, NG_008466.1:g.4153_4157del, NG_008466.1:g.4154_4157del, NG_008466.1:g.4155_4157del, NG_008466.1:g.4156_4157del, NG_008466.1:g.4157del, NG_008466.1:g.4157dup, NG_008466.1:g.4156_4157dup, NG_008466.1:g.4155_4157dup, NG_008466.1:g.4154_4157dup, NG_008466.1:g.4153_4157dup, NG_008466.1:g.4152_4157dup, NG_008466.1:g.4151_4157dup, NG_008466.1:g.4150_4157dup, NG_008466.1:g.4149_4157dup, NG_008466.1:g.4148_4157dup, NG_008466.1:g.4147_4157dup, NG_008466.1:g.4146_4157dup, NG_008466.1:g.4142_4157dup, NG_050738.1:g.5715_5725del, NG_050738.1:g.5716_5725del, NG_050738.1:g.5717_5725del, NG_050738.1:g.5718_5725del, NG_050738.1:g.5719_5725del, NG_050738.1:g.5720_5725del, NG_050738.1:g.5721_5725del, NG_050738.1:g.5722_5725del, NG_050738.1:g.5723_5725del, NG_050738.1:g.5724_5725del, NG_050738.1:g.5725del, NG_050738.1:g.5725dup, NG_050738.1:g.5724_5725dup, NG_050738.1:g.5723_5725dup, NG_050738.1:g.5722_5725dup, NG_050738.1:g.5721_5725dup, NG_050738.1:g.5720_5725dup, NG_050738.1:g.5719_5725dup, NG_050738.1:g.5718_5725dup, NG_050738.1:g.5717_5725dup, NG_050738.1:g.5716_5725dup, NG_050738.1:g.5715_5725dup, NG_050738.1:g.5714_5725dup, NG_050738.1:g.5710_5725dup

Select item 14911838828.

rs1491183882 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:5988052 (GRCh38)
7:6027683 (GRCh37)
Canonical SPDI:: NC_000007.14:5988051:CA:
Gene:: PMS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00236/28 (ALFA)
-=0.00118/31 (TOMMO)
HGVS:: NC_000007.14:g.5988052_5988053del, NC_000007.13:g.6027683_6027684del, NG_008466.1:g.26054_26055del

Select item 14911275629.

rs1491127562 has merged into rs775240349 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 7:5996588 (GRCh38)
7:6036219 (GRCh37)
Canonical SPDI:: NC_000007.14:5996577:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:5996577:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:5996577:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:5996577:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:5996577:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:5996577:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:5996577:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:5996577:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:5996577:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: PMS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.5996588_5996591del, NC_000007.14:g.5996590_5996591del, NC_000007.14:g.5996591del, NC_000007.14:g.5996591dup, NC_000007.14:g.5996590_5996591dup, NC_000007.14:g.5996589_5996591dup, NC_000007.14:g.5996588_5996591dup, NC_000007.14:g.5996587_5996591dup, NC_000007.14:g.5996586_5996591dup, NC_000007.13:g.6036219_6036222del, NC_000007.13:g.6036221_6036222del, NC_000007.13:g.6036222del, NC_000007.13:g.6036222dup, NC_000007.13:g.6036221_6036222dup, NC_000007.13:g.6036220_6036222dup, NC_000007.13:g.6036219_6036222dup, NC_000007.13:g.6036218_6036222dup, NC_000007.13:g.6036217_6036222dup, NG_008466.1:g.17526_17529del, NG_008466.1:g.17528_17529del, NG_008466.1:g.17529del, NG_008466.1:g.17529dup, NG_008466.1:g.17528_17529dup, NG_008466.1:g.17527_17529dup, NG_008466.1:g.17526_17529dup, NG_008466.1:g.17525_17529dup, NG_008466.1:g.17524_17529dup

Select item 149112060810.

rs1491120608 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:6009949 (GRCh38)
7:6049580 (GRCh37)
Canonical SPDI:: NC_000007.14:6009948:CA:
Gene:: PMS2 (Varview), AIMP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.6009949_6009950del, NC_000007.13:g.6049580_6049581del, NG_008466.1:g.4157_4158del, NG_050738.1:g.5699_5700del

Select item 149111986511.

rs1491119865 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 7:6013953 (GRCh38)
7:6053584 (GRCh37)
Canonical SPDI:: NC_000007.14:6013952:GG:
Gene:: AIMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0002/1 (ALFA)
HGVS:: NC_000007.14:g.6013953_6013954del, NC_000007.13:g.6053584_6053585del, NG_008466.1:g.153_154del, NG_050738.1:g.9703_9704del

Select item 149111552912.

rs1491115529 has merged into rs1370537425 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:6013007 (GRCh38)
7:6052638 (GRCh37)
Canonical SPDI:: NC_000007.14:6013005:ACA:A
Gene:: AIMP2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000008/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.6013007_6013008del, NC_000007.13:g.6052638_6052639del, NG_008466.1:g.1100_1101del, NG_050738.1:g.8757_8758del, XM_005249847.4:c.-20_-19del, XM_005249847.3:c.-20_-19del, XM_005249847.2:c.-20_-19del, XM_005249847.1:c.-20_-19del

Select item 149106609013.

rs1491066090 has merged into rs60152367 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:5979212 (GRCh38)
7:6018843 (GRCh37)
Canonical SPDI:: NC_000007.14:5979201:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:5979201:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:5979201:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:5979201:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:5979201:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:5979201:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:5979201:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:5979201:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:5979201:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:5979201:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:5979201:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:5979201:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:5979201:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:5979201:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:5979201:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:5979201:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:5979201:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PMS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.5979212_5979223del, NC_000007.14:g.5979213_5979223del, NC_000007.14:g.5979214_5979223del, NC_000007.14:g.5979215_5979223del, NC_000007.14:g.5979216_5979223del, NC_000007.14:g.5979217_5979223del, NC_000007.14:g.5979218_5979223del, NC_000007.14:g.5979220_5979223del, NC_000007.14:g.5979221_5979223del, NC_000007.14:g.5979222_5979223del, NC_000007.14:g.5979223del, NC_000007.14:g.5979223dup, NC_000007.14:g.5979222_5979223dup, NC_000007.14:g.5979221_5979223dup, NC_000007.14:g.5979220_5979223dup, NC_000007.14:g.5979219_5979223dup, NC_000007.14:g.5979218_5979223dup, NC_000007.13:g.6018843_6018854del, NC_000007.13:g.6018844_6018854del, NC_000007.13:g.6018845_6018854del, NC_000007.13:g.6018846_6018854del, NC_000007.13:g.6018847_6018854del, NC_000007.13:g.6018848_6018854del, NC_000007.13:g.6018849_6018854del, NC_000007.13:g.6018851_6018854del, NC_000007.13:g.6018852_6018854del, NC_000007.13:g.6018853_6018854del, NC_000007.13:g.6018854del, NC_000007.13:g.6018854dup, NC_000007.13:g.6018853_6018854dup, NC_000007.13:g.6018852_6018854dup, NC_000007.13:g.6018851_6018854dup, NC_000007.13:g.6018850_6018854dup, NC_000007.13:g.6018849_6018854dup, NG_008466.1:g.34894_34905del, NG_008466.1:g.34895_34905del, NG_008466.1:g.34896_34905del, NG_008466.1:g.34897_34905del, NG_008466.1:g.34898_34905del, NG_008466.1:g.34899_34905del, NG_008466.1:g.34900_34905del, NG_008466.1:g.34902_34905del, NG_008466.1:g.34903_34905del, NG_008466.1:g.34904_34905del, NG_008466.1:g.34905del, NG_008466.1:g.34905dup, NG_008466.1:g.34904_34905dup, NG_008466.1:g.34903_34905dup, NG_008466.1:g.34902_34905dup, NG_008466.1:g.34901_34905dup, NG_008466.1:g.34900_34905dup

Select item 149104259914.

rs1491042599 has merged into rs144366351 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:6012256 (GRCh38)
7:6051887 (GRCh37)
Canonical SPDI:: NC_000007.14:6012252:AAAAAAAAAAAAAA:AAA,NC_000007.14:6012252:AAAAAAAAAAAAAA:AAAAAA,NC_000007.14:6012252:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:6012252:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:6012252:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:6012252:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:6012252:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:6012252:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:6012252:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:6012252:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:6012252:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:6012252:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: AIMP2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.03136/145 (1000Genomes)
HGVS:: NC_000007.14:g.6012256_6012266del, NC_000007.14:g.6012259_6012266del, NC_000007.14:g.6012262_6012266del, NC_000007.14:g.6012263_6012266del, NC_000007.14:g.6012264_6012266del, NC_000007.14:g.6012265_6012266del, NC_000007.14:g.6012266del, NC_000007.14:g.6012266dup, NC_000007.14:g.6012265_6012266dup, NC_000007.14:g.6012264_6012266dup, NC_000007.14:g.6012259_6012266dup, NC_000007.14:g.6012258_6012266dup, NC_000007.13:g.6051887_6051897del, NC_000007.13:g.6051890_6051897del, NC_000007.13:g.6051893_6051897del, NC_000007.13:g.6051894_6051897del, NC_000007.13:g.6051895_6051897del, NC_000007.13:g.6051896_6051897del, NC_000007.13:g.6051897del, NC_000007.13:g.6051897dup, NC_000007.13:g.6051896_6051897dup, NC_000007.13:g.6051895_6051897dup, NC_000007.13:g.6051890_6051897dup, NC_000007.13:g.6051889_6051897dup, NG_008466.1:g.1844_1854del, NG_008466.1:g.1847_1854del, NG_008466.1:g.1850_1854del, NG_008466.1:g.1851_1854del, NG_008466.1:g.1852_1854del, NG_008466.1:g.1853_1854del, NG_008466.1:g.1854del, NG_008466.1:g.1854dup, NG_008466.1:g.1853_1854dup, NG_008466.1:g.1852_1854dup, NG_008466.1:g.1847_1854dup, NG_008466.1:g.1846_1854dup, NG_050738.1:g.8006_8016del, NG_050738.1:g.8009_8016del, NG_050738.1:g.8012_8016del, NG_050738.1:g.8013_8016del, NG_050738.1:g.8014_8016del, NG_050738.1:g.8015_8016del, NG_050738.1:g.8016del, NG_050738.1:g.8016dup, NG_050738.1:g.8015_8016dup, NG_050738.1:g.8014_8016dup, NG_050738.1:g.8009_8016dup, NG_050738.1:g.8008_8016dup, XM_005249847.4:c.-771_-761del, XM_005249847.4:c.-768_-761del, XM_005249847.4:c.-765_-761del, XM_005249847.4:c.-764_-761del, XM_005249847.4:c.-763_-761del, XM_005249847.4:c.-762_-761del, XM_005249847.4:c.-761del, XM_005249847.4:c.-761dup, XM_005249847.4:c.-762_-761dup, XM_005249847.4:c.-763_-761dup, XM_005249847.4:c.-768_-761dup, XM_005249847.4:c.-769_-761dup

Select item 149101078615.

rs1491010786 has merged into rs11289444 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 7:5999001 (GRCh38)
7:6038632 (GRCh37)
Canonical SPDI:: NC_000007.14:5998989:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:5998989:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:5998989:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:5998989:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:5998989:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:5998989:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:5998989:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: PMS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.275/11 (GENOME_DK)
A=0.3463/205 (NorthernSweden)
A=0.4765/2376 (1000Genomes)
HGVS:: NC_000007.14:g.5999001_5999005del, NC_000007.14:g.5999002_5999005del, NC_000007.14:g.5999003_5999005del, NC_000007.14:g.5999004_5999005del, NC_000007.14:g.5999005del, NC_000007.14:g.5999005dup, NC_000007.14:g.5999004_5999005dup, NC_000007.13:g.6038632_6038636del, NC_000007.13:g.6038633_6038636del, NC_000007.13:g.6038634_6038636del, NC_000007.13:g.6038635_6038636del, NC_000007.13:g.6038636del, NC_000007.13:g.6038636dup, NC_000007.13:g.6038635_6038636dup, NG_008466.1:g.15113_15117del, NG_008466.1:g.15114_15117del, NG_008466.1:g.15115_15117del, NG_008466.1:g.15116_15117del, NG_008466.1:g.15117del, NG_008466.1:g.15117dup, NG_008466.1:g.15116_15117dup

Select item 149089510116.

rs1490895101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:5982161 (GRCh38)
7:6021792 (GRCh37)
Canonical SPDI:: NC_000007.14:5982160:G:A
Gene:: PMS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.5982161G>A, NC_000007.13:g.6021792G>A, NG_008466.1:g.31946C>T

Select item 149081010217.

rs1490810102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:6003590 (GRCh38)
7:6043221 (GRCh37)
Canonical SPDI:: NC_000007.14:6003589:G:A
Gene:: PMS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.6003590G>A, NC_000007.13:g.6043221G>A, NG_008466.1:g.10517C>T

Select item 149071759918.

rs1490717599 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:5992049 (GRCh38)
7:6031680 (GRCh37)
Canonical SPDI:: NC_000007.14:5992048:T:A,NC_000007.14:5992048:T:C
Gene:: PMS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.5992049T>A, NC_000007.14:g.5992049T>C, NC_000007.13:g.6031680T>A, NC_000007.13:g.6031680T>C, NG_008466.1:g.22058A>T, NG_008466.1:g.22058A>G, NM_000535.7:c.912A>T, NM_000535.7:c.912A>G, NM_000535.6:c.912A>T, NM_000535.6:c.912A>G, NM_000535.5:c.912A>T, NM_000535.5:c.912A>G, NM_001322009.2:c.507A>T, NM_001322009.2:c.507A>G, NM_001322009.1:c.507A>T, NM_001322009.1:c.507A>G, NM_001322005.2:c.507A>T, NM_001322005.2:c.507A>G, NM_001322005.1:c.507A>T, NM_001322005.1:c.507A>G, NM_001322015.2:c.603A>T, NM_001322015.2:c.603A>G, NM_001322015.1:c.603A>T, NM_001322015.1:c.603A>G, NM_001322014.2:c.912A>T, NM_001322014.2:c.912A>G, NM_001322014.1:c.912A>T, NM_001322014.1:c.912A>G, NM_001322003.2:c.507A>T, NM_001322003.2:c.507A>G, NM_001322003.1:c.507A>T, NM_001322003.1:c.507A>G, NM_001322011.2:c.-22A>T, NM_001322011.2:c.-22A>G, NM_001322011.1:c.-22A>T, NM_001322011.1:c.-22A>G, NM_001322012.2:c.-22A>T, NM_001322012.2:c.-22A>G, NM_001322012.1:c.-22A>T, NM_001322012.1:c.-22A>G, NM_001322007.2:c.594A>T, NM_001322007.2:c.594A>G, NM_001322007.1:c.594A>T, NM_001322007.1:c.594A>G, NM_001322004.2:c.507A>T, NM_001322004.2:c.507A>G, NM_001322004.1:c.507A>T, NM_001322004.1:c.507A>G, NM_001322006.2:c.912A>T, NM_001322006.2:c.912A>G, NM_001322006.1:c.912A>T, NM_001322006.1:c.912A>G, NM_001322013.2:c.339A>T, NM_001322013.2:c.339A>G, NM_001322013.1:c.339A>T, NM_001322013.1:c.339A>G, NM_001322008.2:c.594A>T, NM_001322008.2:c.594A>G, NM_001322008.1:c.594A>T, NM_001322008.1:c.594A>G, NM_001322010.2:c.507A>T, NM_001322010.2:c.507A>G, NM_001322010.1:c.507A>T, NM_001322010.1:c.507A>G, NM_001406877.1:c.603A>T, NM_001406877.1:c.603A>G, NM_001406875.1:c.603A>T, NM_001406875.1:c.603A>G, NM_001406882.1:c.603A>T, NM_001406882.1:c.603A>G, NM_001406893.1:c.507A>T, NM_001406893.1:c.507A>G, NM_001406866.1:c.1098A>T, NM_001406866.1:c.1098A>G, NM_001406897.1:c.507A>T, NM_001406897.1:c.507A>G, NM_001406878.1:c.603A>T, NM_001406878.1:c.603A>G, NM_001406898.1:c.507A>T, NM_001406898.1:c.507A>G, NM_001406891.1:c.507A>T, NM_001406891.1:c.507A>G, NM_001406894.1:c.507A>T, NM_001406894.1:c.507A>G, NM_001406899.1:c.507A>T, NM_001406899.1:c.507A>G, NM_001406880.1:c.603A>T, NM_001406880.1:c.603A>G, NM_001406879.1:c.603A>T, NM_001406879.1:c.603A>G, NM_001406887.1:c.507A>T, NM_001406887.1:c.507A>G, NM_001406868.1:c.936A>T, NM_001406868.1:c.936A>G, NR_136154.1:n.999A>T, NR_136154.1:n.999A>G, NM_001406890.1:c.507A>T, NM_001406890.1:c.507A>G, NM_001406888.1:c.507A>T, NM_001406888.1:c.507A>G, NM_001406892.1:c.507A>T, NM_001406892.1:c.507A>G, NM_001406889.1:c.507A>T, NM_001406889.1:c.507A>G, NM_001406881.1:c.603A>T, NM_001406881.1:c.603A>G, NM_001406876.1:c.594A>T, NM_001406876.1:c.594A>G, NM_001406900.1:c.603A>T, NM_001406900.1:c.603A>G, NM_001406883.1:c.594A>T, NM_001406883.1:c.594A>G, NM_001406869.1:c.804A>T, NM_001406869.1:c.804A>G, NM_001406905.1:c.399A>T, NM_001406905.1:c.399A>G, NM_001406870.1:c.912A>T, NM_001406870.1:c.912A>G, NM_001406871.1:c.912A>T, NM_001406871.1:c.912A>G, NM_001406906.1:c.507A>T, NM_001406906.1:c.507A>G, NM_001406904.1:c.399A>T, NM_001406904.1:c.399A>G, NM_001406874.1:c.744A>T, NM_001406874.1:c.744A>G, NM_001406872.1:c.912A>T, NM_001406872.1:c.912A>G, NM_001406908.1:c.507A>T, NM_001406908.1:c.507A>G, NM_001406896.1:c.507A>T, NM_001406896.1:c.507A>G, NM_001406895.1:c.507A>T, NM_001406895.1:c.507A>G, NM_001406873.1:c.714A>T, NM_001406873.1:c.714A>G, NM_001406907.1:c.507A>T, NM_001406907.1:c.507A>G, NM_001406909.1:c.339A>T, NM_001406909.1:c.339A>G, NM_001406901.1:c.594A>T, NM_001406901.1:c.594A>G, NM_001406902.1:c.594A>T, NM_001406902.1:c.594A>G, NM_001406903.1:c.594A>T, NM_001406903.1:c.594A>G, NM_001406910.1:c.507A>T, NM_001406910.1:c.507A>G, NM_001406884.1:c.744A>T, NM_001406884.1:c.744A>G, NM_001406885.1:c.576A>T, NM_001406885.1:c.576A>G, NM_001406886.1:c.546A>T, NM_001406886.1:c.546A>G, NM_001406911.1:c.141A>T, NM_001406911.1:c.141A>G, XM_024446800.2:c.507A>T, XM_024446800.2:c.507A>G, NR_003085.2:n.994A>T, NR_003085.2:n.994A>G, XM_047420482.1:c.957A>T, XM_047420482.1:c.957A>G, XM_047420483.1:c.906A>T, XM_047420483.1:c.906A>G, XM_047420484.1:c.957A>T, XM_047420484.1:c.957A>G, XM_047420485.1:c.594A>T, XM_047420485.1:c.594A>G, XM_047420486.1:c.-22A>T, XM_047420486.1:c.-22A>G, NM_001018040.1:c.507A>T, NM_001018040.1:c.507A>G, NP_000526.2:p.Arg304Ser, NP_001308938.1:p.Arg169Ser, NP_001308934.1:p.Arg169Ser, NP_001308944.1:p.Arg201Ser, NP_001308943.1:p.Arg304Ser, NP_001308932.1:p.Arg169Ser, NP_001308936.1:p.Arg198Ser, NP_001308933.1:p.Arg169Ser, NP_001308935.1:p.Arg304Ser, NP_001308942.1:p.Arg113Ser, NP_001308937.1:p.Arg198Ser, NP_001308939.1:p.Arg169Ser, XP_024302568.1:p.Arg169Ser, XP_047276438.1:p.Arg319Ser, XP_047276439.1:p.Arg302Ser, XP_047276440.1:p.Arg319Ser, XP_047276441.1:p.Arg198Ser

Select item 149063608819.

rs1490636088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:5995225 (GRCh38)
7:6034856 (GRCh37)
Canonical SPDI:: NC_000007.14:5995224:C:T
Gene:: PMS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000007.14:g.5995225C>T, NC_000007.13:g.6034856C>T, NG_008466.1:g.18882G>A

Select item 149059804420.

rs1490598044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:5987410 (GRCh38)
7:6027041 (GRCh37)
Canonical SPDI:: NC_000007.14:5987409:C:A,NC_000007.14:5987409:C:G,NC_000007.14:5987409:C:T
Gene:: PMS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.5987410C>A, NC_000007.14:g.5987410C>G, NC_000007.14:g.5987410C>T, NC_000007.13:g.6027041C>A, NC_000007.13:g.6027041C>G, NC_000007.13:g.6027041C>T, NG_008466.1:g.26697G>T, NG_008466.1:g.26697G>C, NG_008466.1:g.26697G>A, NM_000535.7:c.1355G>T, NM_000535.7:c.1355G>C, NM_000535.7:c.1355G>A, NM_000535.6:c.1355G>T, NM_000535.6:c.1355G>C, NM_000535.6:c.1355G>A, NM_000535.5:c.1355G>T, NM_000535.5:c.1355G>C, NM_000535.5:c.1355G>A, NM_001322009.2:c.950G>T, NM_001322009.2:c.950G>C, NM_001322009.2:c.950G>A, NM_001322009.1:c.950G>T, NM_001322009.1:c.950G>C, NM_001322009.1:c.950G>A, NM_001322005.2:c.950G>T, NM_001322005.2:c.950G>C, NM_001322005.2:c.950G>A, NM_001322005.1:c.950G>T, NM_001322005.1:c.950G>C, NM_001322005.1:c.950G>A, NM_001322015.2:c.1046G>T, NM_001322015.2:c.1046G>C, NM_001322015.2:c.1046G>A, NM_001322015.1:c.1046G>T, NM_001322015.1:c.1046G>C, NM_001322015.1:c.1046G>A, NM_001322014.2:c.1355G>T, NM_001322014.2:c.1355G>C, NM_001322014.2:c.1355G>A, NM_001322014.1:c.1355G>T, NM_001322014.1:c.1355G>C, NM_001322014.1:c.1355G>A, NM_001322003.2:c.950G>T, NM_001322003.2:c.950G>C, NM_001322003.2:c.950G>A, NM_001322003.1:c.950G>T, NM_001322003.1:c.950G>C, NM_001322003.1:c.950G>A, NM_001322011.2:c.422G>T, NM_001322011.2:c.422G>C, NM_001322011.2:c.422G>A, NM_001322011.1:c.422G>T, NM_001322011.1:c.422G>C, NM_001322011.1:c.422G>A, NM_001322012.2:c.422G>T, NM_001322012.2:c.422G>C, NM_001322012.2:c.422G>A, NM_001322012.1:c.422G>T, NM_001322012.1:c.422G>C, NM_001322012.1:c.422G>A, NM_001322007.2:c.1037G>T, NM_001322007.2:c.1037G>C, NM_001322007.2:c.1037G>A, NM_001322007.1:c.1037G>T, NM_001322007.1:c.1037G>C, NM_001322007.1:c.1037G>A, NM_001322004.2:c.950G>T, NM_001322004.2:c.950G>C, NM_001322004.2:c.950G>A, NM_001322004.1:c.950G>T, NM_001322004.1:c.950G>C, NM_001322004.1:c.950G>A, NM_001322006.2:c.1199G>T, NM_001322006.2:c.1199G>C, NM_001322006.2:c.1199G>A, NM_001322006.1:c.1199G>T, NM_001322006.1:c.1199G>C, NM_001322006.1:c.1199G>A, NM_001322013.2:c.782G>T, NM_001322013.2:c.782G>C, NM_001322013.2:c.782G>A, NM_001322013.1:c.782G>T, NM_001322013.1:c.782G>C, NM_001322013.1:c.782G>A, NM_001322008.2:c.1037G>T, NM_001322008.2:c.1037G>C, NM_001322008.2:c.1037G>A, NM_001322008.1:c.1037G>T, NM_001322008.1:c.1037G>C, NM_001322008.1:c.1037G>A, NM_001322010.2:c.794G>T, NM_001322010.2:c.794G>C, NM_001322010.2:c.794G>A, NM_001322010.1:c.794G>T, NM_001322010.1:c.794G>C, NM_001322010.1:c.794G>A, NM_001406877.1:c.1046G>T, NM_001406877.1:c.1046G>C, NM_001406877.1:c.1046G>A, NM_001406875.1:c.1046G>T, NM_001406875.1:c.1046G>C, NM_001406875.1:c.1046G>A, NM_001406882.1:c.1046G>T, NM_001406882.1:c.1046G>C, NM_001406882.1:c.1046G>A, NM_001406893.1:c.950G>T, NM_001406893.1:c.950G>C, NM_001406893.1:c.950G>A, NM_001406866.1:c.1541G>T, NM_001406866.1:c.1541G>C, NM_001406866.1:c.1541G>A, NM_001406897.1:c.950G>T, NM_001406897.1:c.950G>C, NM_001406897.1:c.950G>A, NM_001406878.1:c.1046G>T, NM_001406878.1:c.1046G>C, NM_001406878.1:c.1046G>A, NM_001406898.1:c.950G>T, NM_001406898.1:c.950G>C, NM_001406898.1:c.950G>A, NM_001406891.1:c.950G>T, NM_001406891.1:c.950G>C, NM_001406891.1:c.950G>A, NM_001406894.1:c.950G>T, NM_001406894.1:c.950G>C, NM_001406894.1:c.950G>A, NM_001406899.1:c.950G>T, NM_001406899.1:c.950G>C, NM_001406899.1:c.950G>A, NM_001406880.1:c.1046G>T, NM_001406880.1:c.1046G>C, NM_001406880.1:c.1046G>A, NM_001406879.1:c.1046G>T, NM_001406879.1:c.1046G>C, NM_001406879.1:c.1046G>A, NM_001406887.1:c.950G>T, NM_001406887.1:c.950G>C, NM_001406887.1:c.950G>A, NM_001406868.1:c.1379G>T, NM_001406868.1:c.1379G>C, NM_001406868.1:c.1379G>A, NR_136154.1:n.1442G>T, NR_136154.1:n.1442G>C, NR_136154.1:n.1442G>A, NM_001406890.1:c.950G>T, NM_001406890.1:c.950G>C, NM_001406890.1:c.950G>A, NM_001406888.1:c.950G>T, NM_001406888.1:c.950G>C, NM_001406888.1:c.950G>A, NM_001406892.1:c.950G>T, NM_001406892.1:c.950G>C, NM_001406892.1:c.950G>A, NM_001406889.1:c.950G>T, NM_001406889.1:c.950G>C, NM_001406889.1:c.950G>A, NM_001406881.1:c.1046G>T, NM_001406881.1:c.1046G>C, NM_001406881.1:c.1046G>A, NM_001406876.1:c.1037G>T, NM_001406876.1:c.1037G>C, NM_001406876.1:c.1037G>A, NM_001406900.1:c.890G>T, NM_001406900.1:c.890G>C, NM_001406900.1:c.890G>A, NM_001406883.1:c.1037G>T, NM_001406883.1:c.1037G>C, NM_001406883.1:c.1037G>A, NM_001406869.1:c.1247G>T, NM_001406869.1:c.1247G>C, NM_001406869.1:c.1247G>A, NM_001406905.1:c.842G>T, NM_001406905.1:c.842G>C, NM_001406905.1:c.842G>A, NM_001406870.1:c.1199G>T, NM_001406870.1:c.1199G>C, NM_001406870.1:c.1199G>A, NM_001406871.1:c.1355G>T, NM_001406871.1:c.1355G>C, NM_001406871.1:c.1355G>A, NM_001406906.1:c.794G>T, NM_001406906.1:c.794G>C, NM_001406906.1:c.794G>A, NM_001406904.1:c.842G>T, NM_001406904.1:c.842G>C, NM_001406904.1:c.842G>A, NM_001406874.1:c.1187G>T, NM_001406874.1:c.1187G>C, NM_001406874.1:c.1187G>A, NM_001406872.1:c.1355G>T, NM_001406872.1:c.1355G>C, NM_001406872.1:c.1355G>A, NM_001406908.1:c.950G>T, NM_001406908.1:c.950G>C, NM_001406908.1:c.950G>A, NM_001406896.1:c.950G>T, NM_001406896.1:c.950G>C, NM_001406896.1:c.950G>A, NM_001406895.1:c.950G>T, NM_001406895.1:c.950G>C, NM_001406895.1:c.950G>A, NM_001406873.1:c.1157G>T, NM_001406873.1:c.1157G>C, NM_001406873.1:c.1157G>A, NM_001406907.1:c.794G>T, NM_001406907.1:c.794G>C, NM_001406907.1:c.794G>A, NM_001406909.1:c.782G>T, NM_001406909.1:c.782G>C, NM_001406909.1:c.782G>A, NM_001406901.1:c.881G>T, NM_001406901.1:c.881G>C, NM_001406901.1:c.881G>A, NM_001406902.1:c.881G>T, NM_001406902.1:c.881G>C, NM_001406902.1:c.881G>A, NM_001406903.1:c.1037G>T, NM_001406903.1:c.1037G>C, NM_001406903.1:c.1037G>A, NM_001406910.1:c.950G>T, NM_001406910.1:c.950G>C, NM_001406910.1:c.950G>A, NM_001406884.1:c.1031G>T, NM_001406884.1:c.1031G>C, NM_001406884.1:c.1031G>A, NM_001406885.1:c.1019G>T, NM_001406885.1:c.1019G>C, NM_001406885.1:c.1019G>A, NM_001406886.1:c.989G>T, NM_001406886.1:c.989G>C, NM_001406886.1:c.989G>A, NM_001406911.1:c.584G>T, NM_001406911.1:c.584G>C, NM_001406911.1:c.584G>A, XM_024446800.2:c.794G>T, XM_024446800.2:c.794G>C, XM_024446800.2:c.794G>A, NR_003085.2:n.1437G>T, NR_003085.2:n.1437G>C, NR_003085.2:n.1437G>A, XM_047420482.1:c.1400G>T, XM_047420482.1:c.1400G>C, XM_047420482.1:c.1400G>A, XM_047420483.1:c.1349G>T, XM_047420483.1:c.1349G>C, XM_047420483.1:c.1349G>A, XM_047420484.1:c.1244G>T, XM_047420484.1:c.1244G>C, XM_047420484.1:c.1244G>A, XM_047420485.1:c.1037G>T, XM_047420485.1:c.1037G>C, XM_047420485.1:c.1037G>A, XM_047420486.1:c.422G>T, XM_047420486.1:c.422G>C, XM_047420486.1:c.422G>A, NM_001018040.1:c.950G>T, NM_001018040.1:c.950G>C, NM_001018040.1:c.950G>A, NP_000526.2:p.Gly452Val, NP_000526.2:p.Gly452Ala, NP_000526.2:p.Gly452Asp, NP_001308938.1:p.Gly317Val, NP_001308938.1:p.Gly317Ala, NP_001308938.1:p.Gly317Asp, NP_001308934.1:p.Gly317Val, NP_001308934.1:p.Gly317Ala, NP_001308934.1:p.Gly317Asp, NP_001308944.1:p.Gly349Val, NP_001308944.1:p.Gly349Ala, NP_001308944.1:p.Gly349Asp, NP_001308943.1:p.Gly452Val, NP_001308943.1:p.Gly452Ala, NP_001308943.1:p.Gly452Asp, NP_001308932.1:p.Gly317Val, NP_001308932.1:p.Gly317Ala, NP_001308932.1:p.Gly317Asp, NP_001308940.1:p.Gly141Val, NP_001308940.1:p.Gly141Ala, NP_001308940.1:p.Gly141Asp, NP_001308941.1:p.Gly141Val, NP_001308941.1:p.Gly141Ala, NP_001308941.1:p.Gly141Asp, NP_001308936.1:p.Gly346Val, NP_001308936.1:p.Gly346Ala, NP_001308936.1:p.Gly346Asp, NP_001308933.1:p.Gly317Val, NP_001308933.1:p.Gly317Ala, NP_001308933.1:p.Gly317Asp, NP_001308935.1:p.Gly400Val, NP_001308935.1:p.Gly400Ala, NP_001308935.1:p.Gly400Asp, NP_001308942.1:p.Gly261Val, NP_001308942.1:p.Gly261Ala, NP_001308942.1:p.Gly261Asp, NP_001308937.1:p.Gly346Val, NP_001308937.1:p.Gly346Ala, NP_001308937.1:p.Gly346Asp, NP_001308939.1:p.Gly265Val, NP_001308939.1:p.Gly265Ala, NP_001308939.1:p.Gly265Asp, XP_024302568.1:p.Gly265Val, XP_024302568.1:p.Gly265Ala, XP_024302568.1:p.Gly265Asp, XP_047276438.1:p.Gly467Val, XP_047276438.1:p.Gly467Ala, XP_047276438.1:p.Gly467Asp, XP_047276439.1:p.Gly450Val, XP_047276439.1:p.Gly450Ala, XP_047276439.1:p.Gly450Asp, XP_047276440.1:p.Gly415Val, XP_047276440.1:p.Gly415Ala, XP_047276440.1:p.Gly415Asp, XP_047276441.1:p.Gly346Val, XP_047276441.1:p.Gly346Ala, XP_047276441.1:p.Gly346Asp, XP_047276442.1:p.Gly141Val, XP_047276442.1:p.Gly141Ala, XP_047276442.1:p.Gly141Asp

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