SNP Links for Gene (Select 23550) - SNP

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Select item 14915474261.

rs1491547426 has merged into rs35422941 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA [Show Flanks]
Chromosome:: 2:113166825 (GRCh38)
2:113924402 (GRCh37)
Canonical SPDI:: NC_000002.12:113166816:AAAAAAAAAAAA:AAAAAAAA,NC_000002.12:113166816:AAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:113166816:AAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:113166816:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:113166816:AAAAAAAAAAAA:AAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0.1987/995 (1000Genomes)
A=0.225/9 (GENOME_DK)
A=0.3027/178 (NorthernSweden)
-=0.3598/2488 (TOMMO)
HGVS:: NC_000002.12:g.113166825_113166828del, NC_000002.12:g.113166826_113166828del, NC_000002.12:g.113166827_113166828del, NC_000002.12:g.113166828del, NC_000002.12:g.113166828dup, NC_000002.11:g.113924402_113924405del, NC_000002.11:g.113924403_113924405del, NC_000002.11:g.113924404_113924405del, NC_000002.11:g.113924405del, NC_000002.11:g.113924405dup

Select item 14915205312.

rs1491520531 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ACA,ACACA,ACACACA,ACACACACA,ACACACACACA,ACACACACACACA,ACACACACACACACA [Show Flanks]
Chromosome:: 2:113168657 (GRCh38)
2:113926235 (GRCh37)
Canonical SPDI:: NC_000002.12:113168657::A,NC_000002.12:113168657::ACA,NC_000002.12:113168657::ACACA,NC_000002.12:113168657::ACACACA,NC_000002.12:113168657::ACACACACA,NC_000002.12:113168657::ACACACACACA,NC_000002.12:113168657::ACACACACACACA,NC_000002.12:113168657::ACACACACACACACA
Validated:: by frequency,by cluster
MAF:: A=0.0191/35 (Korea1K)
A=0.0435/26 (NorthernSweden)
HGVS:: NC_000002.12:g.113168657_113168658insA, NC_000002.12:g.113168657_113168658insACA, NC_000002.12:g.113168657_113168658insACACA, NC_000002.12:g.113168657_113168658insACACACA, NC_000002.12:g.113168657_113168658insACACACACA, NC_000002.12:g.113168657_113168658insACACACACACA, NC_000002.12:g.113168657_113168658insACACACACACACA, NC_000002.12:g.113168657_113168658insACACACACACACACA, NC_000002.11:g.113926234_113926235insA, NC_000002.11:g.113926234_113926235insACA, NC_000002.11:g.113926234_113926235insACACA, NC_000002.11:g.113926234_113926235insACACACA, NC_000002.11:g.113926234_113926235insACACACACA, NC_000002.11:g.113926234_113926235insACACACACACA, NC_000002.11:g.113926234_113926235insACACACACACACA, NC_000002.11:g.113926234_113926235insACACACACACACACA

Select item 14914976903.

rs1491497690 has merged into rs35251391 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TA,TATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 2:113189362 (GRCh38)
2:113946939 (GRCh37)
Canonical SPDI:: NC_000002.12:113189351:TATATATATATATATA:TATATATATA,NC_000002.12:113189351:TATATATATATATATA:TATATATATATA,NC_000002.12:113189351:TATATATATATATATA:TATATATATATATA,NC_000002.12:113189351:TATATATATATATATA:TATATATATATATATATA,NC_000002.12:113189351:TATATATATATATATA:TATATATATATATATATATA,NC_000002.12:113189351:TATATATATATATATA:TATATATATATATATATATATA,NC_000002.12:113189351:TATATATATATATATA:TATATATATATATATATATATATA,NC_000002.12:113189351:TATATATATATATATA:TATATATATATATATATATATATATA,NC_000002.12:113189351:TATATATATATATATA:TATATATATATATATATATATATATATA,NC_000002.12:113189351:TATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000002.12:113189351:TATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000002.12:113189351:TATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000002.12:113189351:TATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000002.12:113189351:TATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000002.12:113189351:TATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:113189351:TATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:113189351:TATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:113189351:TATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:113189351:TATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: PSD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATA=0./0 (ALFA)
TA=0.275/11 (GENOME_DK)
TA=0.2929/1467 (1000Genomes)
TA=0.3933/236 (NorthernSweden)
HGVS:: NC_000002.12:g.113189352TA[5], NC_000002.12:g.113189352TA[6], NC_000002.12:g.113189352TA[7], NC_000002.12:g.113189352TA[9], NC_000002.12:g.113189352TA[10], NC_000002.12:g.113189352TA[11], NC_000002.12:g.113189352TA[12], NC_000002.12:g.113189352TA[13], NC_000002.12:g.113189352TA[14], NC_000002.12:g.113189352TA[15], NC_000002.12:g.113189352TA[16], NC_000002.12:g.113189352TA[17], NC_000002.12:g.113189352TA[19], NC_000002.12:g.113189352TA[20], NC_000002.12:g.113189352TA[21], NC_000002.12:g.113189352TA[22], NC_000002.12:g.113189352TA[23], NC_000002.12:g.113189352TA[24], NC_000002.12:g.113189352TA[25], NC_000002.11:g.113946929TA[5], NC_000002.11:g.113946929TA[6], NC_000002.11:g.113946929TA[7], NC_000002.11:g.113946929TA[9], NC_000002.11:g.113946929TA[10], NC_000002.11:g.113946929TA[11], NC_000002.11:g.113946929TA[12], NC_000002.11:g.113946929TA[13], NC_000002.11:g.113946929TA[14], NC_000002.11:g.113946929TA[15], NC_000002.11:g.113946929TA[16], NC_000002.11:g.113946929TA[17], NC_000002.11:g.113946929TA[19], NC_000002.11:g.113946929TA[20], NC_000002.11:g.113946929TA[21], NC_000002.11:g.113946929TA[22], NC_000002.11:g.113946929TA[23], NC_000002.11:g.113946929TA[24], NC_000002.11:g.113946929TA[25]

Select item 14914536684.

rs1491453668 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:113160242 (GRCh38)
2:113917819 (GRCh37)
Canonical SPDI:: NC_000002.12:113160241:TA:
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.113160242_113160243del, NC_000002.11:g.113917819_113917820del

Select item 14914247745.

rs1491424774 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGG [Show Flanks]
Chromosome:: 2:113195549 (GRCh38)
2:113953127 (GRCh37)
Canonical SPDI:: NC_000002.12:113195549:TGG:TGGCTGG
Gene:: PSD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGGCTGG=0.00025/3 (ALFA)
TGGC=0.00039/20 (GnomAD)
TGGC=0.01/6 (NorthernSweden)
HGVS:: NC_000002.12:g.113195552_113195553insCTGG, NC_000002.11:g.113953129_113953130insCTGG

Select item 14914073886.

rs1491407388 has merged into rs34479674 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 2:113181240 (GRCh38)
2:113938817 (GRCh37)
Canonical SPDI:: NC_000002.12:113181227:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:113181227:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:113181227:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:113181227:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:113181227:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:113181227:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:113181227:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: PSD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.4065/2036 (1000Genomes)
HGVS:: NC_000002.12:g.113181240_113181243del, NC_000002.12:g.113181241_113181243del, NC_000002.12:g.113181242_113181243del, NC_000002.12:g.113181243del, NC_000002.12:g.113181243dup, NC_000002.12:g.113181242_113181243dup, NC_000002.12:g.113181241_113181243dup, NC_000002.11:g.113938817_113938820del, NC_000002.11:g.113938818_113938820del, NC_000002.11:g.113938819_113938820del, NC_000002.11:g.113938820del, NC_000002.11:g.113938820dup, NC_000002.11:g.113938819_113938820dup, NC_000002.11:g.113938818_113938820dup

Select item 14913921767.

rs1491392176 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 2:113168607 (GRCh38)
2:113926185 (GRCh37)
Canonical SPDI:: NC_000002.12:113168607:CA:CACA
Validated:: by cluster
HGVS:: NC_000002.12:g.113168608_113168609dup, NC_000002.11:g.113926185_113926186dup

Select item 14913116788.

rs1491311678 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:113181227 (GRCh38)
2:113938804 (GRCh37)
Canonical SPDI:: NC_000002.12:113181226:CA:
Gene:: PSD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000002.12:g.113181227_113181228del, NC_000002.11:g.113938804_113938805del

Select item 14912050079.

rs1491205007 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAA [Show Flanks]
Chromosome:: 2:113166817 (GRCh38)
2:113924395 (GRCh37)
Canonical SPDI:: NC_000002.12:113166817:AA:AACAA
Validated:: by frequency,by alfa
MAF:: AACAA=0./0 (ALFA)
AAC=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.113166819_113166820insCAA, NC_000002.11:g.113924396_113924397insCAA

Select item 149113005110.

rs1491130051 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:113195549 (GRCh38)
2:113953126 (GRCh37)
Canonical SPDI:: NC_000002.12:113195548:AT:
Gene:: PSD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.0001/5 (GnomAD)
HGVS:: NC_000002.12:g.113195549_113195550del, NC_000002.11:g.113953126_113953127del

Select item 149109408811.

rs1491094088 has merged into rs34423406 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 2:113160254 (GRCh38)
2:113917831 (GRCh37)
Canonical SPDI:: NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:113160242:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.2157/1080 (1000Genomes)
HGVS:: NC_000002.12:g.113160254_113160260del, NC_000002.12:g.113160256_113160260del, NC_000002.12:g.113160257_113160260del, NC_000002.12:g.113160258_113160260del, NC_000002.12:g.113160259_113160260del, NC_000002.12:g.113160260del, NC_000002.12:g.113160260dup, NC_000002.12:g.113160259_113160260dup, NC_000002.12:g.113160258_113160260dup, NC_000002.11:g.113917831_113917837del, NC_000002.11:g.113917833_113917837del, NC_000002.11:g.113917834_113917837del, NC_000002.11:g.113917835_113917837del, NC_000002.11:g.113917836_113917837del, NC_000002.11:g.113917837del, NC_000002.11:g.113917837dup, NC_000002.11:g.113917836_113917837dup, NC_000002.11:g.113917835_113917837dup

Select item 149101327512.

rs1491013275 has merged into rs34063371 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:113163855 (GRCh38)
2:113921432 (GRCh37)
Canonical SPDI:: NC_000002.12:113163847:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000002.12:113163847:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:113163847:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:113163847:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:113163847:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:113163847:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:113163847:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:113163847:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:113163847:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113163847:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113163847:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113163847:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113163847:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113163847:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113163847:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113163855_113163867del, NC_000002.12:g.113163856_113163867del, NC_000002.12:g.113163861_113163867del, NC_000002.12:g.113163863_113163867del, NC_000002.12:g.113163864_113163867del, NC_000002.12:g.113163865_113163867del, NC_000002.12:g.113163866_113163867del, NC_000002.12:g.113163867del, NC_000002.12:g.113163867dup, NC_000002.12:g.113163866_113163867dup, NC_000002.12:g.113163865_113163867dup, NC_000002.12:g.113163864_113163867dup, NC_000002.12:g.113163863_113163867dup, NC_000002.12:g.113163862_113163867dup, NC_000002.12:g.113163860_113163867dup, NC_000002.11:g.113921432_113921444del, NC_000002.11:g.113921433_113921444del, NC_000002.11:g.113921438_113921444del, NC_000002.11:g.113921440_113921444del, NC_000002.11:g.113921441_113921444del, NC_000002.11:g.113921442_113921444del, NC_000002.11:g.113921443_113921444del, NC_000002.11:g.113921444del, NC_000002.11:g.113921444dup, NC_000002.11:g.113921443_113921444dup, NC_000002.11:g.113921442_113921444dup, NC_000002.11:g.113921441_113921444dup, NC_000002.11:g.113921440_113921444dup, NC_000002.11:g.113921439_113921444dup, NC_000002.11:g.113921437_113921444dup

Select item 149086329513.

rs1490863295 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:113181299 (GRCh38)
2:113938876 (GRCh37)
Canonical SPDI:: NC_000002.12:113181298:T:C,NC_000002.12:113181298:T:G
Gene:: PSD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.113181299T>C, NC_000002.12:g.113181299T>G, NC_000002.11:g.113938876T>C, NC_000002.11:g.113938876T>G

Select item 149082592314.

rs1490825923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:113198901 (GRCh38)
2:113956478 (GRCh37)
Canonical SPDI:: NC_000002.12:113198900:G:C
Gene:: PSD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.113198901G>C, NC_000002.11:g.113956478G>C

Select item 149075750815.

rs1490757508 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113173710 (GRCh38)
2:113931287 (GRCh37)
Canonical SPDI:: NC_000002.12:113173709:A:G
Gene:: PSD4 (Varview), LOC124907872 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113173710A>G, NC_000002.11:g.113931287A>G

Select item 149072328916.

rs1490723289 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113160106 (GRCh38)
2:113917683 (GRCh37)
Canonical SPDI:: NC_000002.12:113160105:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113160106A>G, NC_000002.11:g.113917683A>G

Select item 149069862817.

rs1490698628 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113158851 (GRCh38)
2:113916428 (GRCh37)
Canonical SPDI:: NC_000002.12:113158850:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.113158851A>G, NC_000002.11:g.113916428A>G

Select item 149063482318.

rs1490634823 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113166523 (GRCh38)
2:113924100 (GRCh37)
Canonical SPDI:: NC_000002.12:113166522:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000035/1 (TOMMO)
A=0.000057/8 (GnomAD)
A=0.000087/23 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.113166523G>A, NC_000002.11:g.113924100G>A

Select item 149049313019.

rs1490493130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113199297 (GRCh38)
2:113956874 (GRCh37)
Canonical SPDI:: NC_000002.12:113199296:C:T
Gene:: PSD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.113199297C>T, NC_000002.11:g.113956874C>T

Select item 149035911520.

rs1490359115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113167398 (GRCh38)
2:113924975 (GRCh37)
Canonical SPDI:: NC_000002.12:113167397:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113167398G>A, NC_000002.11:g.113924975G>A

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