SNP Links for Gene (Select 5978) - SNP

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Select item 14915496461.

rs1491549646 has merged into rs11321935 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT [Show Flanks]
Chromosome:: 4:56914915 (GRCh38)
4:57781081 (GRCh37)
Canonical SPDI:: NC_000004.12:56914905:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:56914905:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:56914905:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:56914905:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:56914905:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:56914905:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: REST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.391/1507 (ALSPAC)
HGVS:: NC_000004.12:g.56914915_56914919del, NC_000004.12:g.56914916_56914919del, NC_000004.12:g.56914917_56914919del, NC_000004.12:g.56914918_56914919del, NC_000004.12:g.56914919del, NC_000004.12:g.56914919dup, NC_000004.11:g.57781081_57781085del, NC_000004.11:g.57781082_57781085del, NC_000004.11:g.57781083_57781085del, NC_000004.11:g.57781084_57781085del, NC_000004.11:g.57781085del, NC_000004.11:g.57781085dup, NG_029447.1:g.12040_12044del, NG_029447.1:g.12041_12044del, NG_029447.1:g.12042_12044del, NG_029447.1:g.12043_12044del, NG_029447.1:g.12044del, NG_029447.1:g.12044dup

Select item 14914687672.

rs1491468767 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:56907424 (GRCh38)
4:57773590 (GRCh37)
Canonical SPDI:: NC_000004.12:56907423:TA:
Gene:: REST (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.56907424_56907425del, NC_000004.11:g.57773590_57773591del, NG_029447.1:g.4549_4550del, NG_077549.1:g.142_143del

Select item 14912176593.

rs1491217659 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 4:56922314 (GRCh38)
4:57788480 (GRCh37)
Canonical SPDI:: NC_000004.12:56922313:AC:
Gene:: REST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.196004/2325 (ALFA)
-=0.016593/30 (Korea1K)
-=0.037512/627 (TOMMO)
-=0.0681/38 (NorthernSweden)
-=0.209462/24665 (GnomAD)
-=0.214842/828 (ALSPAC)
-=0.230043/853 (TWINSUK)
HGVS:: NC_000004.12:g.56922314_56922315del, NC_000004.11:g.57788480_57788481del, NG_029447.1:g.19439_19440del

Select item 14912161154.

rs1491216115 has merged into rs1193678055 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:56915252 (GRCh38)
4:57781418 (GRCh37)
Canonical SPDI:: NC_000004.12:56915240:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:56915240:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:56915240:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:56915240:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:56915240:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:56915240:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:56915240:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:56915240:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:56915240:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:56915240:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56915240:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56915240:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56915240:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56915240:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56915240:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56915240:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56915240:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56915240:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: REST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.56915252_56915263del, NC_000004.12:g.56915253_56915263del, NC_000004.12:g.56915254_56915263del, NC_000004.12:g.56915255_56915263del, NC_000004.12:g.56915256_56915263del, NC_000004.12:g.56915257_56915263del, NC_000004.12:g.56915258_56915263del, NC_000004.12:g.56915259_56915263del, NC_000004.12:g.56915261_56915263del, NC_000004.12:g.56915262_56915263del, NC_000004.12:g.56915263del, NC_000004.12:g.56915263dup, NC_000004.12:g.56915262_56915263dup, NC_000004.12:g.56915261_56915263dup, NC_000004.12:g.56915260_56915263dup, NC_000004.12:g.56915259_56915263dup, NC_000004.12:g.56915258_56915263dup, NC_000004.12:g.56915256_56915263dup, NC_000004.11:g.57781418_57781429del, NC_000004.11:g.57781419_57781429del, NC_000004.11:g.57781420_57781429del, NC_000004.11:g.57781421_57781429del, NC_000004.11:g.57781422_57781429del, NC_000004.11:g.57781423_57781429del, NC_000004.11:g.57781424_57781429del, NC_000004.11:g.57781425_57781429del, NC_000004.11:g.57781427_57781429del, NC_000004.11:g.57781428_57781429del, NC_000004.11:g.57781429del, NC_000004.11:g.57781429dup, NC_000004.11:g.57781428_57781429dup, NC_000004.11:g.57781427_57781429dup, NC_000004.11:g.57781426_57781429dup, NC_000004.11:g.57781425_57781429dup, NC_000004.11:g.57781424_57781429dup, NC_000004.11:g.57781422_57781429dup, NG_029447.1:g.12377_12388del, NG_029447.1:g.12378_12388del, NG_029447.1:g.12379_12388del, NG_029447.1:g.12380_12388del, NG_029447.1:g.12381_12388del, NG_029447.1:g.12382_12388del, NG_029447.1:g.12383_12388del, NG_029447.1:g.12384_12388del, NG_029447.1:g.12386_12388del, NG_029447.1:g.12387_12388del, NG_029447.1:g.12388del, NG_029447.1:g.12388dup, NG_029447.1:g.12387_12388dup, NG_029447.1:g.12386_12388dup, NG_029447.1:g.12385_12388dup, NG_029447.1:g.12384_12388dup, NG_029447.1:g.12383_12388dup, NG_029447.1:g.12381_12388dup

Select item 14910120085.

rs1491012008 has merged into rs11378040 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 4:56927109 (GRCh38)
4:57793275 (GRCh37)
Canonical SPDI:: NC_000004.12:56927099:AAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:56927099:AAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:56927099:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:56927099:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:56927099:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:56927099:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: REST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1853/656 (1000Genomes)
HGVS:: NC_000004.12:g.56927109_56927111del, NC_000004.12:g.56927110_56927111del, NC_000004.12:g.56927111del, NC_000004.12:g.56927111dup, NC_000004.12:g.56927110_56927111dup, NC_000004.12:g.56927109_56927111dup, NC_000004.11:g.57793275_57793277del, NC_000004.11:g.57793276_57793277del, NC_000004.11:g.57793277del, NC_000004.11:g.57793277dup, NC_000004.11:g.57793276_57793277dup, NC_000004.11:g.57793275_57793277dup, NG_029447.1:g.24234_24236del, NG_029447.1:g.24235_24236del, NG_029447.1:g.24236del, NG_029447.1:g.24236dup, NG_029447.1:g.24235_24236dup, NG_029447.1:g.24234_24236dup

Select item 14910103056.

rs1491010305 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:56920735 (GRCh38)
4:57786902 (GRCh37)
Canonical SPDI:: NC_000004.12:56920735:T:TT
Gene:: REST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000015/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.56920736dup, NC_000004.11:g.57786902dup, NG_029447.1:g.17861dup

Select item 14909633857.

rs1490963385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:56930652 (GRCh38)
4:57796818 (GRCh37)
Canonical SPDI:: NC_000004.12:56930651:G:A
Gene:: REST (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.56930652G>A, NC_000004.11:g.57796818G>A, NG_029447.1:g.27777G>A, NM_005612.5:c.1794G>A, NM_005612.4:c.1794G>A, NM_001363453.2:c.1794G>A, NM_001363453.1:c.1794G>A, NM_001193508.1:c.1794G>A, XM_017008527.2:c.1710G>A, XM_017008527.1:c.1710G>A, XM_047416053.1:c.1710G>A

Select item 14908522048.

rs1490852204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:56925555 (GRCh38)
4:57791721 (GRCh37)
Canonical SPDI:: NC_000004.12:56925554:C:G,NC_000004.12:56925554:C:T
Gene:: REST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.56925555C>G, NC_000004.12:g.56925555C>T, NC_000004.11:g.57791721C>G, NC_000004.11:g.57791721C>T, NG_029447.1:g.22680C>G, NG_029447.1:g.22680C>T

Select item 14907867249.

rs1490786724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:56919006 (GRCh38)
4:57785172 (GRCh37)
Canonical SPDI:: NC_000004.12:56919005:G:C
Gene:: REST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.56919006G>C, NC_000004.11:g.57785172G>C, NG_029447.1:g.16131G>C

Select item 149077406410.

rs1490774064 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:56931968 (GRCh38)
4:57798134 (GRCh37)
Canonical SPDI:: NC_000004.12:56931967:C:A,NC_000004.12:56931967:C:T
Gene:: REST (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.56931968C>A, NC_000004.12:g.56931968C>T, NC_000004.11:g.57798134C>A, NC_000004.11:g.57798134C>T, NG_029447.1:g.29093C>A, NG_029447.1:g.29093C>T, NM_005612.5:c.3110C>A, NM_005612.5:c.3110C>T, NM_005612.4:c.3110C>A, NM_005612.4:c.3110C>T, NM_001363453.2:c.3110C>A, NM_001363453.2:c.3110C>T, NM_001363453.1:c.3110C>A, NM_001363453.1:c.3110C>T, NM_001193508.1:c.3110C>A, NM_001193508.1:c.3110C>T, XM_017008527.2:c.3026C>A, XM_017008527.2:c.3026C>T, XM_017008527.1:c.3026C>A, XM_017008527.1:c.3026C>T, XM_047416053.1:c.3026C>A, XM_047416053.1:c.3026C>T, NP_005603.3:p.Pro1037Gln, NP_005603.3:p.Pro1037Leu, NP_001350382.1:p.Pro1037Gln, NP_001350382.1:p.Pro1037Leu, NP_001180437.1:p.Pro1037Gln, NP_001180437.1:p.Pro1037Leu, XP_016864016.1:p.Pro1009Gln, XP_016864016.1:p.Pro1009Leu, XP_047272009.1:p.Pro1009Gln, XP_047272009.1:p.Pro1009Leu

Select item 149075422711.

rs1490754227 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:56918588 (GRCh38)
4:57784754 (GRCh37)
Canonical SPDI:: NC_000004.12:56918587:T:G
Gene:: REST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.00006/16 (TOPMED)
G=0.000071/10 (GnomAD)
HGVS:: NC_000004.12:g.56918588T>G, NC_000004.11:g.57784754T>G, NG_029447.1:g.15713T>G

Select item 149063715312.

rs1490637153 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:56934216 (GRCh38)
4:57800382 (GRCh37)
Canonical SPDI:: NC_000004.12:56934215:A:T
Gene:: REST (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.56934216A>T, NC_000004.11:g.57800382A>T, NG_029447.1:g.31341A>T, NM_005612.5:c.*2064A>T, NM_005612.4:c.*2064A>T, NM_001363453.2:c.*2064A>T, NM_001363453.1:c.*2064A>T, NM_001193508.1:c.*2064A>T, XM_017008527.2:c.*2064A>T, XM_017008527.1:c.*2064A>T, XM_047416053.1:c.*2064A>T

Select item 149038881913.

rs1490388819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:56913870 (GRCh38)
4:57780036 (GRCh37)
Canonical SPDI:: NC_000004.12:56913869:G:A
Gene:: REST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.56913870G>A, NC_000004.11:g.57780036G>A, NG_029447.1:g.10995G>A

Select item 149027086214.

rs1490270862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:56920522 (GRCh38)
4:57786688 (GRCh37)
Canonical SPDI:: NC_000004.12:56920521:G:T
Gene:: REST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.56920522G>T, NC_000004.11:g.57786688G>T, NG_029447.1:g.17647G>T

Select item 149026599615.

rs1490265996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:56907722 (GRCh38)
4:57773888 (GRCh37)
Canonical SPDI:: NC_000004.12:56907721:C:A
Gene:: REST (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.56907722C>A, NC_000004.11:g.57773888C>A, NG_029447.1:g.4847C>A, NG_077549.1:g.440C>A

Select item 149020765616.

rs1490207656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:56917673 (GRCh38)
4:57783839 (GRCh37)
Canonical SPDI:: NC_000004.12:56917672:G:A
Gene:: REST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.56917673G>A, NC_000004.11:g.57783839G>A, NG_029447.1:g.14798G>A

Select item 149014083017.

rs1490140830 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:56930292 (GRCh38)
4:57796458 (GRCh37)
Canonical SPDI:: NC_000004.12:56930291:G:A,NC_000004.12:56930291:G:T
Gene:: REST (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.56930292G>A, NC_000004.12:g.56930292G>T, NC_000004.11:g.57796458G>A, NC_000004.11:g.57796458G>T, NG_029447.1:g.27417G>A, NG_029447.1:g.27417G>T, NM_005612.5:c.1434G>A, NM_005612.5:c.1434G>T, NM_005612.4:c.1434G>A, NM_005612.4:c.1434G>T, NM_001363453.2:c.1434G>A, NM_001363453.2:c.1434G>T, NM_001363453.1:c.1434G>A, NM_001363453.1:c.1434G>T, NM_001193508.1:c.1434G>A, NM_001193508.1:c.1434G>T, XM_017008527.2:c.1350G>A, XM_017008527.2:c.1350G>T, XM_017008527.1:c.1350G>A, XM_017008527.1:c.1350G>T, XM_047416053.1:c.1350G>A, XM_047416053.1:c.1350G>T, NP_005603.3:p.Lys478Asn, NP_001350382.1:p.Lys478Asn, NP_001180437.1:p.Lys478Asn, XP_016864016.1:p.Lys450Asn, XP_047272009.1:p.Lys450Asn

Select item 149005361518.

rs1490053615 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:56934305 (GRCh38)
4:57800471 (GRCh37)
Canonical SPDI:: NC_000004.12:56934304:A:G
Gene:: REST (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.56934305A>G, NC_000004.11:g.57800471A>G, NG_029447.1:g.31430A>G, NM_005612.5:c.*2153A>G, NM_005612.4:c.*2153A>G, NM_001363453.2:c.*2153A>G, NM_001363453.1:c.*2153A>G, NM_001193508.1:c.*2153A>G, XM_017008527.2:c.*2153A>G, XM_017008527.1:c.*2153A>G, XM_047416053.1:c.*2153A>G

Select item 148990969619.

rs1489909696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:56927077 (GRCh38)
4:57793243 (GRCh37)
Canonical SPDI:: NC_000004.12:56927076:C:G,NC_000004.12:56927076:C:T
Gene:: REST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000022/3 (GnomAD)
G=0.000042/11 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000004.12:g.56927077C>G, NC_000004.12:g.56927077C>T, NC_000004.11:g.57793243C>G, NC_000004.11:g.57793243C>T, NG_029447.1:g.24202C>G, NG_029447.1:g.24202C>T

Select item 148975926520.

rs1489759265 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:56907870 (GRCh38)
4:57774036 (GRCh37)
Canonical SPDI:: NC_000004.12:56907869:G:A
Gene:: REST (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.56907870G>A, NC_000004.11:g.57774036G>A, NG_029447.1:g.4995G>A

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